nsv2483
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:94,865
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048196700_K6'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048240900_F9'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048255500_F4'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048015400_N7'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048641200_C14'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048641200_M20'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048920500_E22'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000000884758_K18'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000000887358_M10'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000946114_A6'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050924900_E5'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041245800_H13'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043875000_D5'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000045920200_D8'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000044449700_P18'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045516800_B13'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044507800_M1'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044531100_P4'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044535000_F23'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044632400_N14'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044687600_E23'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044688300_J15'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044748400_P19'
- TRACE: TEMPLATE_ID='174779_ABC12_000046658000_F20'
- TRACE: TEMPLATE_ID='178925_ABC12_000047980800_J12'
- TRACE: TEMPLATE_ID='G248P84222B3'
- TRACE: TEMPLATE_ID='G248P87484D6'
- TRACE: TEMPLATE_ID='G248P87485G9'
- TRACE: TEMPLATE_ID='G248P89173G12'
- TRACE: TEMPLATE_ID='G248P89231F6'
- 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: 516 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 565 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2483 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,850,001 | 39,929,598 |
| nsv2483 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 109,877 | 204,741 |
| nsv2483 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 40,340,641 | 40,435,505 |
| nsv2483 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 45,032,481 | 45,127,345 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv2224 | deletion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv10188 | deletion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv10997 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv6787 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv5745 | deletion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv1453 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv4360 | deletion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv2224 | Remapped | Pass | NW_009646206.1:g.( 109877_?)_(157795_ ?)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 109,877 | 157,795 | - |
| nssv10188 | Remapped | Pass | NW_009646206.1:g.( 138267_?)_(157795_ ?)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 138,267 | 157,795 | - |
| nssv10997 | Remapped | Good | NW_009646206.1:g.( 142813_?)_(157795_ ?)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 142,813 | 157,795 | - |
| nssv6787 | Remapped | Perfect | NW_009646206.1:g.( 143305_?)_(?_19913 0)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 143,305 | - | 199,130 |
| nssv5745 | Remapped | Perfect | NW_009646206.1:g.( 144743_?)_(?_19838 5)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 144,743 | - | 198,385 |
| nssv1453 | Remapped | Perfect | NW_009646206.1:g.( 147957_?)_(?_19548 4)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 147,957 | - | 195,484 |
| nssv4360 | Remapped | Perfect | NW_009646206.1:g.( 150218_?)_(?_20474 1)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 150,218 | - | 204,741 |
| nssv2224 | Remapped | Pass | NC_000019.10:g.(39 850001_?)_(3989791 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,850,001 | 39,897,919 | - |
| nssv10188 | Remapped | Pass | NC_000019.10:g.(39 878391_?)_(3989791 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,878,391 | 39,897,919 | - |
| nssv10997 | Remapped | Good | NC_000019.10:g.(39 882937_?)_(3989791 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,882,937 | 39,897,919 | - |
| nssv6787 | Remapped | Pass | NC_000019.10:g.(39 883429_?)_(?_39923 987)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,883,429 | - | 39,923,987 |
| nssv5745 | Remapped | Pass | NC_000019.10:g.(39 884867_?)_(?_39923 242)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,884,867 | - | 39,923,242 |
| nssv1453 | Remapped | Pass | NC_000019.10:g.(39 888081_?)_(?_39920 341)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,888,081 | - | 39,920,341 |
| nssv4360 | Remapped | Pass | NC_000019.10:g.(39 890342_?)_(?_39929 598)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,890,342 | - | 39,929,598 |
| nssv2224 | Remapped | Perfect | NC_000019.9:g.(403 40641_?)_(?_403934 02)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,340,641 | - | 40,393,402 |
| nssv10188 | Remapped | Perfect | NC_000019.9:g.(403 69031_?)_(?_403912 54)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,369,031 | - | 40,391,254 |
| nssv10997 | Remapped | Perfect | NC_000019.9:g.(403 73577_?)_(?_403892 55)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,373,577 | - | 40,389,255 |
| nssv6787 | Remapped | Perfect | NC_000019.9:g.(403 74069_?)_(?_404298 94)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,374,069 | - | 40,429,894 |
| nssv5745 | Remapped | Perfect | NC_000019.9:g.(403 75507_?)_(?_404291 49)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,375,507 | - | 40,429,149 |
| nssv1453 | Remapped | Perfect | NC_000019.9:g.(403 78721_?)_(?_404262 48)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,378,721 | - | 40,426,248 |
| nssv4360 | Remapped | Perfect | NC_000019.9:g.(403 80982_?)_(?_404355 05)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,380,982 | - | 40,435,505 |
| nssv2224 | Submitted genomic | NC_000019.8:g.(450 32481_?)_(?_450852 42)del17299 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,032,481 | - | 45,085,242 | ||
| nssv10188 | Submitted genomic | NC_000019.8:g.(450 60871_?)_(?_450830 94)del19419 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,060,871 | - | 45,083,094 | ||
| nssv10997 | Submitted genomic | NC_000019.8:g.(450 65417_?)_(?_450810 95)del15465 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,065,417 | - | 45,081,095 | ||
| nssv6787 | Submitted genomic | NC_000019.8:g.(450 65909_?)_(?_451217 34)del17247 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,065,909 | - | 45,121,734 | ||
| nssv5745 | Submitted genomic | NC_000019.8:g.(450 67347_?)_(?_451209 89)del15946 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,067,347 | - | 45,120,989 | ||
| nssv1453 | Submitted genomic | NC_000019.8:g.(450 70561_?)_(?_451180 88)del14941 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,070,561 | - | 45,118,088 | ||
| nssv4360 | Submitted genomic | NC_000019.8:g.(450 72822_?)_(?_451273 45)del15257 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,072,822 | - | 45,127,345 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv10188 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
| nssv10997 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |
| nssv10997 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |