nsv2137
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:56,968
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047169100_G3'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048008100_N1'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048011400_B8'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048224500_H24'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048258200_H18'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048325600_D5'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048024800_P4'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049392500_P4'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000047642700_J5'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048706500_P8'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048706600_A23'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048713600_N24'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000927222_M9'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048817700_E15'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048858700_F13'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048887200_L8'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048919600_O15'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000946114_J13'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000993914_P2'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050103300_H1'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050413700_F8'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050420800_H10'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000708022_P6'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000789522_A14'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000043744300_I13'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043830000_L19'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043839100_E21'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000045924500_G6'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045490800_M4'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045506900_N4'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045527400_F17'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043908400_P21'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043910200_G6'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044003600_G1'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000045366000_B16'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000043668700_G17'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044084900_G24'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044511000_F18'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000046315100_O19'
- TRACE: TEMPLATE_ID='174779_ABC12_000049215400_M23'
- TRACE: TEMPLATE_ID='178925_ABC12_000047984100_K13'
- TRACE: TEMPLATE_ID='178925_ABC12_000047984700_P14'
- TRACE: TEMPLATE_ID='G248P86100D8'
- TRACE: TEMPLATE_ID='G248P88917B10'
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 279 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2137 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 72,841,475 | 72,884,102 |
| nsv2137 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 8,145 | 65,112 |
| nsv2137 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 8,146 | 57,122 |
| nsv2137 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 70,837,614 | 70,880,241 |
| nsv2137 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 68,349,209 | 68,391,836 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7346 | insertion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv4288 | insertion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv5671 | insertion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv10979 | insertion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv10134 | insertion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv1383 | insertion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv2185 | insertion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv9968 | insertion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv5672 | insertion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7346 | Remapped | Pass | NW_019805501.1:g.( 8145_?)_(?_35818)i ns5706 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 8,145 | 35,818 |
| nssv7346 | Remapped | Pass | NT_187616.1:g.(814 6_?)_(?_35869)ins5 706 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 8,146 | 35,869 |
| nssv4288 | Remapped | Pass | NW_019805501.1:g.( 12121_?)_(?_39803) ins7251 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 12,121 | 39,803 |
| nssv4288 | Remapped | Pass | NT_187616.1:g.(121 29_?)_(?_39864)ins 7251 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 12,129 | 39,864 |
| nssv5671 | Remapped | Perfect | NW_019805501.1:g.( 13125_?)_(?_22174) ins6881 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 13,125 | 22,174 |
| nssv5671 | Remapped | Good | NT_187616.1:g.(131 30_?)_(?_22171)ins 6881 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 13,130 | 22,171 |
| nssv10979 | Remapped | Pass | NT_187616.1:g.(203 63_?)_(?_55934)ins 8832 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 20,363 | 55,934 |
| nssv10979 | Remapped | Pass | NW_019805501.1:g.( 20366_?)_(?_63924) ins8832 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 20,366 | 63,924 |
| nssv10134 | Remapped | Pass | NT_187616.1:g.(219 26_?)_(?_33701)ins 6043 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 21,926 | 33,701 |
| nssv10134 | Remapped | Pass | NW_019805501.1:g.( 21929_?)_(?_33703) ins6043 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 21,929 | 33,703 |
| nssv1383 | Remapped | Good | NW_019805501.1:g.( 34939_?)_(?_37476) ins11359 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 34,939 | 37,476 |
| nssv1383 | Remapped | Perfect | NT_187616.1:g.(349 90_?)_(?_37529)ins 11359 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 34,990 | 37,529 |
| nssv2185 | Remapped | Pass | NW_019805501.1:g.( 45396_?)_(?_65112) ins9567 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 45,396 | 65,112 |
| nssv2185 | Remapped | Perfect | NT_187616.1:g.(454 66_?)_(?_57122)ins 9567 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 45,466 | 57,122 |
| nssv9968 | Remapped | Perfect | NW_019805501.1:g.( 45585_?)_(?_51255) ins8235 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 45,585 | 51,255 |
| nssv9968 | Remapped | Perfect | NT_187616.1:g.(456 55_?)_(?_51325)ins 8235 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 45,655 | 51,325 |
| nssv5672 | Remapped | Pass | NW_019805501.1:g.( 50714_?)_(?_64575) ins9475 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 50,714 | 64,575 |
| nssv5672 | Remapped | Perfect | NT_187616.1:g.(507 84_?)_(?_56585)ins 9475 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 50,784 | 56,585 |
| nssv7346 | Remapped | Perfect | NC_000017.11:g.(72 841475_?)_(?_72862 850)ins5706 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,841,475 | 72,862,850 |
| nssv4288 | Remapped | Perfect | NC_000017.11:g.(72 845451_?)_(?_72866 844)ins7251 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,845,451 | 72,866,844 |
| nssv5671 | Remapped | Perfect | NC_000017.11:g.(72 846455_?)_(?_72855 504)ins6881 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,846,455 | 72,855,504 |
| nssv10979 | Remapped | Perfect | NC_000017.11:g.(72 853696_?)_(?_72882 914)ins8832 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,853,696 | 72,882,914 |
| nssv10134 | Remapped | Perfect | NC_000017.11:g.(72 855259_?)_(?_72860 686)ins6043 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,855,259 | 72,860,686 |
| nssv1383 | Remapped | Perfect | NC_000017.11:g.(72 861971_?)_(?_72864 510)ins11359 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,861,971 | 72,864,510 |
| nssv2185 | Remapped | Perfect | NC_000017.11:g.(72 872446_?)_(?_72884 102)ins9567 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,872,446 | 72,884,102 |
| nssv9968 | Remapped | Perfect | NC_000017.11:g.(72 872635_?)_(?_72878 305)ins8235 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,872,635 | 72,878,305 |
| nssv5672 | Remapped | Perfect | NC_000017.11:g.(72 877764_?)_(?_72883 565)ins9475 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,877,764 | 72,883,565 |
| nssv7346 | Remapped | Perfect | NC_000017.10:g.(70 837614_?)_(?_70858 989)ins5706 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,837,614 | 70,858,989 |
| nssv4288 | Remapped | Perfect | NC_000017.10:g.(70 841590_?)_(?_70862 983)ins7251 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,841,590 | 70,862,983 |
| nssv5671 | Remapped | Perfect | NC_000017.10:g.(70 842594_?)_(?_70851 643)ins6881 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,842,594 | 70,851,643 |
| nssv10979 | Remapped | Perfect | NC_000017.10:g.(70 849835_?)_(?_70879 053)ins8832 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,849,835 | 70,879,053 |
| nssv10134 | Remapped | Perfect | NC_000017.10:g.(70 851398_?)_(?_70856 825)ins6043 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,851,398 | 70,856,825 |
| nssv1383 | Remapped | Perfect | NC_000017.10:g.(70 858110_?)_(?_70860 649)ins11359 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,858,110 | 70,860,649 |
| nssv2185 | Remapped | Perfect | NC_000017.10:g.(70 868585_?)_(?_70880 241)ins9567 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,868,585 | 70,880,241 |
| nssv9968 | Remapped | Perfect | NC_000017.10:g.(70 868774_?)_(?_70874 444)ins8235 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,868,774 | 70,874,444 |
| nssv5672 | Remapped | Perfect | NC_000017.10:g.(70 873903_?)_(?_70879 704)ins9475 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,873,903 | 70,879,704 |
| nssv7346 | Submitted genomic | NC_000017.9:g.(683 49209_?)_(?_683705 84)ins5706 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,349,209 | 68,370,584 | ||
| nssv4288 | Submitted genomic | NC_000017.9:g.(683 53185_?)_(?_683745 78)ins7251 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,353,185 | 68,374,578 | ||
| nssv5671 | Submitted genomic | NC_000017.9:g.(683 54189_?)_(?_683632 38)ins6881 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,354,189 | 68,363,238 | ||
| nssv10979 | Submitted genomic | NC_000017.9:g.(683 61430_?)_(?_683906 48)ins8832 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,361,430 | 68,390,648 | ||
| nssv10134 | Submitted genomic | NC_000017.9:g.(683 62993_?)_(?_683684 20)ins6043 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,362,993 | 68,368,420 | ||
| nssv1383 | Submitted genomic | NC_000017.9:g.(683 69705_?)_(?_683722 44)ins11359 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,369,705 | 68,372,244 | ||
| nssv2185 | Submitted genomic | NC_000017.9:g.(683 80180_?)_(?_683918 36)ins9567 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,380,180 | 68,391,836 | ||
| nssv9968 | Submitted genomic | NC_000017.9:g.(683 80369_?)_(?_683860 39)ins8235 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,380,369 | 68,386,039 | ||
| nssv5672 | Submitted genomic | NC_000017.9:g.(683 85498_?)_(?_683912 99)ins9475 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,385,498 | 68,391,299 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv10134 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
| nssv10979 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |
| nssv7346 | 4 | NA12156 | Sequencing | One end anchored assembly | Pass |
| nssv4288 | 4 | NA12878 | Sequencing | One end anchored assembly | Pass |
| nssv9968 | 4 | NA18507 | Sequencing | One end anchored assembly | Pass |
| nssv2185 | 4 | NA18555 | Sequencing | One end anchored assembly | Pass |
| nssv10134 | 4 | NA18956 | Sequencing | One end anchored assembly | Pass |
| nssv5671 | 4 | NA19129 | Sequencing | One end anchored assembly | Pass |
| nssv5672 | 4 | NA19129 | Sequencing | One end anchored assembly | Pass |
| nssv1383 | 4 | NA19240 | Sequencing | One end anchored assembly | Pass |
| nssv10979 | 4 | SAMN00000376 | Sequencing | One end anchored assembly | Pass |
| nssv10979 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |