nsv5567
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:87,754
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047095500_C10'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048010000_G6'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049656000_E7'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050163000_J13'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050178900_G5'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043829000_F10'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000045918500_J7'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045533000_E2'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044563000_K6'
- 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: 537 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 537 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 160,575,874 | 160,663,627 |
| nsv5567 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 160,996,906 | 161,084,659 |
| nsv5567 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 160,967,317 | 161,055,070 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv10524 | deletion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv596 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv6101 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv2624 | deletion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv10524 | Remapped | Perfect | NC_000006.12:g.(16 0575874_?)_(?_1606 35006)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,575,874 | 160,635,006 |
| nssv596 | Remapped | Perfect | NC_000006.12:g.(16 0580725_?)_(?_1606 21392)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,580,725 | 160,621,392 |
| nssv6101 | Remapped | Perfect | NC_000006.12:g.(16 0614634_?)_(?_1606 63627)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,614,634 | 160,663,627 |
| nssv2624 | Remapped | Perfect | NC_000006.12:g.(16 0615328_?)_(?_1606 35970)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,615,328 | 160,635,970 |
| nssv10524 | Remapped | Perfect | NC_000006.11:g.(16 0996906_?)_(?_1610 56038)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 160,996,906 | 161,056,038 |
| nssv596 | Remapped | Perfect | NC_000006.11:g.(16 1001757_?)_(?_1610 42424)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,001,757 | 161,042,424 |
| nssv6101 | Remapped | Perfect | NC_000006.11:g.(16 1035666_?)_(?_1610 84659)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,035,666 | 161,084,659 |
| nssv2624 | Remapped | Perfect | NC_000006.11:g.(16 1036360_?)_(?_1610 57002)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,036,360 | 161,057,002 |
| nssv10524 | Submitted genomic | NC_000006.9:g.(160 967317_?)_(?_16102 6449)del22374 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 160,967,317 | 161,026,449 | ||
| nssv596 | Submitted genomic | NC_000006.9:g.(160 972168_?)_(?_16101 2835)del9801 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 160,972,168 | 161,012,835 | ||
| nssv6101 | Submitted genomic | NC_000006.9:g.(161 006077_?)_(?_16105 5070)del9554 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 161,006,077 | 161,055,070 | ||
| nssv2624 | Submitted genomic | NC_000006.9:g.(161 006771_?)_(?_16102 7413)del11561 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 161,006,771 | 161,027,413 |