nsv4988
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,220
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047214700_J6'
- TRACE: TEMPLATE_ID='1200277_ABC11_000047253500_H2'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047479600_O2'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047480700_E17'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047484900_H6'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048592300_M5'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000047601200_C9'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000987522_G12'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000008076249_I1'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050164300_C18'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050204100_M10'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050210000_B6'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000046218800_L8'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043997300_H17'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000045472500_L12'
- TRACE: TEMPLATE_ID='174779_ABC12_000046747500_O23'
- TRACE: TEMPLATE_ID='174779_ABC12_000046790600_H2'
- TRACE: TEMPLATE_ID='174779_ABC12_000046882200_C6'
- TRACE: TEMPLATE_ID='174779_ABC12_000049095400_B19'
- 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: 577 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 582 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4988 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 236,699,164 | 236,760,383 |
| nsv4988 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 236,862,464 | 236,923,683 |
| nsv4988 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 233,188,505 | 233,249,724 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv2788 | insertion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv6197 | insertion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv5036 | insertion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv3843 | insertion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv10547 | insertion | NA18956 | Sequencing | Paired-end mapping | 905 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2788 | Remapped | Perfect | NC_000001.11:g.(23 6699164_?)_(?_2367 33226)ins5934 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 236,699,164 | 236,733,226 |
| nssv6197 | Remapped | Perfect | NC_000001.11:g.(23 6709221_?)_(?_2367 38965)ins7430 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 236,709,221 | 236,738,965 |
| nssv5036 | Remapped | Perfect | NC_000001.11:g.(23 6712986_?)_(?_2367 21922)ins7962 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 236,712,986 | 236,721,922 |
| nssv3843 | Remapped | Perfect | NC_000001.11:g.(23 6713195_?)_(?_2367 37087)ins5357 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 236,713,195 | 236,737,087 |
| nssv10547 | Remapped | Perfect | NC_000001.11:g.(23 6729884_?)_(?_2367 60383)ins9006 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 236,729,884 | 236,760,383 |
| nssv2788 | Remapped | Perfect | NC_000001.10:g.(23 6862464_?)_(?_2368 96526)ins5934 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,862,464 | 236,896,526 |
| nssv6197 | Remapped | Perfect | NC_000001.10:g.(23 6872521_?)_(?_2369 02265)ins7430 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,872,521 | 236,902,265 |
| nssv5036 | Remapped | Perfect | NC_000001.10:g.(23 6876286_?)_(?_2368 85222)ins7962 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,876,286 | 236,885,222 |
| nssv3843 | Remapped | Perfect | NC_000001.10:g.(23 6876495_?)_(?_2369 00387)ins5357 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,876,495 | 236,900,387 |
| nssv10547 | Remapped | Perfect | NC_000001.10:g.(23 6893184_?)_(?_2369 23683)ins9006 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,893,184 | 236,923,683 |
| nssv2788 | Submitted genomic | NC_000001.8:g.(233 188505_?)_(?_23322 2567)ins5934 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 233,188,505 | 233,222,567 | ||
| nssv6197 | Submitted genomic | NC_000001.8:g.(233 198562_?)_(?_23322 8306)ins7430 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 233,198,562 | 233,228,306 | ||
| nssv5036 | Submitted genomic | NC_000001.8:g.(233 202327_?)_(?_23321 1263)ins7962 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 233,202,327 | 233,211,263 | ||
| nssv3843 | Submitted genomic | NC_000001.8:g.(233 202536_?)_(?_23322 6428)ins5357 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 233,202,536 | 233,226,428 | ||
| nssv10547 | Submitted genomic | NC_000001.8:g.(233 219225_?)_(?_23324 9724)ins9006 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 233,219,225 | 233,249,724 |