nsv4663
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:62,358
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047150900_F1'
- TRACE: TEMPLATE_ID='1200277_ABC11_000047213500_G9'
- TRACE: TEMPLATE_ID='1200277_ABC11_000047213900_D1'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048708300_F23'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048874700_B14'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048920300_G2'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000043623900_A14'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044527700_D16'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044559700_M7'
- TRACE: TEMPLATE_ID='174779_ABC12_000046543400_L23'
- TRACE: TEMPLATE_ID='174779_ABC12_000046668200_H18'
- TRACE: TEMPLATE_ID='174779_ABC12_000047002800_L2'
- TRACE: TEMPLATE_ID='174779_ABC12_000049219400_N1'
- 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: 888 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 327 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 889 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4663 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,527,633 | 189,580,285 |
| nsv4663 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 165,857 | 228,214 |
| nsv4663 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 190,448,787 | 190,501,439 |
| nsv4663 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 190,823,936 | 190,876,588 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3145 | insertion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv441 | insertion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv3315 | insertion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv4812 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3145 | Remapped | Pass | NT_187679.1:g.(165 857_?)_(?_209116)i ns6480 | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 165,857 | 209,116 |
| nssv441 | Remapped | Pass | NT_187679.1:g.(177 069_?)_(?_211704)i ns6554 | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 177,069 | 211,704 |
| nssv3315 | Remapped | Pass | NT_187679.1:g.(181 777_?)_(?_214486)i ns5329 | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 181,777 | 214,486 |
| nssv4812 | Remapped | Good | NT_187679.1:g.(213 798_?)_(?_228214)i ns9132 | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 213,798 | 228,214 |
| nssv3145 | Remapped | Perfect | NC_000004.12:g.(18 9527633_?)_(?_1895 61177)ins6480 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,527,633 | 189,561,177 |
| nssv441 | Remapped | Perfect | NC_000004.12:g.(18 9538846_?)_(?_1895 63765)ins6554 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,538,846 | 189,563,765 |
| nssv3315 | Remapped | Perfect | NC_000004.12:g.(18 9543555_?)_(?_1895 66555)ins5329 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,543,555 | 189,566,555 |
| nssv4812 | Remapped | Perfect | NC_000004.12:g.(18 9565867_?)_(?_1895 80285)ins9132 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,565,867 | 189,580,285 |
| nssv3145 | Remapped | Perfect | NC_000004.11:g.(19 0448787_?)_(?_1904 82331)ins6480 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,448,787 | 190,482,331 |
| nssv441 | Remapped | Perfect | NC_000004.11:g.(19 0460000_?)_(?_1904 84919)ins6554 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,460,000 | 190,484,919 |
| nssv3315 | Remapped | Perfect | NC_000004.11:g.(19 0464709_?)_(?_1904 87709)ins5329 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,464,709 | 190,487,709 |
| nssv4812 | Remapped | Perfect | NC_000004.11:g.(19 0487021_?)_(?_1905 01439)ins9132 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,487,021 | 190,501,439 |
| nssv3145 | Submitted genomic | NC_000004.9:g.(190 823936_?)_(?_19085 7480)ins6480 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 190,823,936 | 190,857,480 | ||
| nssv441 | Submitted genomic | NC_000004.9:g.(190 835149_?)_(?_19086 0068)ins6554 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 190,835,149 | 190,860,068 | ||
| nssv3315 | Submitted genomic | NC_000004.9:g.(190 839858_?)_(?_19086 2858)ins5329 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 190,839,858 | 190,862,858 | ||
| nssv4812 | Submitted genomic | NC_000004.9:g.(190 862170_?)_(?_19087 6588)ins9132 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 190,862,170 | 190,876,588 |