nsv5303
- 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:78,691
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047215900_I14'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000047379100_F11'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049655000_I11'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047479700_E2'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048054000_H3'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048588600_C12'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049749400_F11'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049766700_N19'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048712500_N9'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000988422_N19'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000988522_H10'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000001044022_A15'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048902100_J2'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048903200_C6'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044539500_N1'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000046315300_H10'
- TRACE: TEMPLATE_ID='G248P80344B2'
- TRACE: TEMPLATE_ID='G248P80344C4'
- 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: 378 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5303 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 51,845,440 | 51,924,130 |
| nsv5303 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 51,710,238 | 51,788,928 |
| nsv5303 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 51,818,197 | 51,896,887 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv550 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv2591 | deletion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv4914 | deletion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv11126 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv550 | Remapped | Perfect | NC_000006.12:g.(51 845440_?)_(?_51886 721)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 51,845,440 | 51,886,721 |
| nssv2591 | Remapped | Perfect | NC_000006.12:g.(51 865351_?)_(?_51886 850)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 51,865,351 | 51,886,850 |
| nssv4914 | Remapped | Perfect | NC_000006.12:g.(51 872636_?)_(?_51886 056)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 51,872,636 | 51,886,056 |
| nssv11126 | Remapped | Perfect | NC_000006.12:g.(51 873948_?)_(?_51924 130)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 51,873,948 | 51,924,130 |
| nssv550 | Remapped | Perfect | NC_000006.11:g.(51 710238_?)_(?_51751 519)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 51,710,238 | 51,751,519 |
| nssv2591 | Remapped | Perfect | NC_000006.11:g.(51 730149_?)_(?_51751 648)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 51,730,149 | 51,751,648 |
| nssv4914 | Remapped | Perfect | NC_000006.11:g.(51 737434_?)_(?_51750 854)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 51,737,434 | 51,750,854 |
| nssv11126 | Remapped | Perfect | NC_000006.11:g.(51 738746_?)_(?_51788 928)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 51,738,746 | 51,788,928 |
| nssv550 | Submitted genomic | NC_000006.9:g.(518 18197_?)_(?_518594 78)del6108 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 51,818,197 | 51,859,478 | ||
| nssv2591 | Submitted genomic | NC_000006.9:g.(518 38108_?)_(?_518596 07)del6660 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 51,838,108 | 51,859,607 | ||
| nssv4914 | Submitted genomic | NC_000006.9:g.(518 45393_?)_(?_518588 13)del6925 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 51,845,393 | 51,858,813 | ||
| nssv11126 | Submitted genomic | NC_000006.9:g.(518 46705_?)_(?_518968 87)del10291 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 51,846,705 | 51,896,887 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv2591 | 3 | NA18555 | Multiple complete digestion | MCD analysis | Pass |