nsv2728
- 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:82,720
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050968000_L7'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050116700_O17'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050116800_J19'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050199700_I5'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050209200_I17'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050417000_A2'
- TRACE: TEMPLATE_ID='165434_ABC7_000042447300_L13'
- TRACE: TEMPLATE_ID='166671_ABC7_000043052100_G1'
- TRACE: TEMPLATE_ID='166692_ABC7_000042759400_M12'
- TRACE: TEMPLATE_ID='166863_ABC7_000043081500_E10'
- TRACE: TEMPLATE_ID='174779_ABC12_000046355500_E9'
- TRACE: TEMPLATE_ID='174779_ABC12_000046674500_D12'
- TRACE: TEMPLATE_ID='174779_ABC12_000046796100_M14'
- TRACE: TEMPLATE_ID='174779_ABC12_000046924800_L4'
- TRACE: TEMPLATE_ID='174779_ABC12_000049113600_F7'
- TRACE: TEMPLATE_ID='178925_ABC12_000047947400_H23'
- TRACE: TEMPLATE_ID='178925_ABC12_000047984700_D9'
- TRACE: TEMPLATE_ID='178925_ABC12_000049284200_L22'
- TRACE: TEMPLATE_ID='G248P87878C6'
- TRACE: TEMPLATE_ID='G248P87928C3'
- 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: 790 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 790 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2728 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 52,498,039 | 52,580,758 |
| nsv2728 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 52,725,177 | 52,807,896 |
| nsv2728 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 52,636,828 | 52,719,547 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv11013 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv4415 | deletion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv6841 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv9348 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv11013 | Remapped | Perfect | NC_000002.12:g.(52 498039_?)_(?_52573 809)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,498,039 | 52,573,809 |
| nssv4415 | Remapped | Perfect | NC_000002.12:g.(52 519193_?)_(?_52558 882)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,519,193 | 52,558,882 |
| nssv6841 | Remapped | Perfect | NC_000002.12:g.(52 520789_?)_(?_52562 498)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,520,789 | 52,562,498 |
| nssv9348 | Remapped | Perfect | NC_000002.12:g.(52 521709_?)_(?_52580 758)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,521,709 | 52,580,758 |
| nssv11013 | Remapped | Perfect | NC_000002.11:g.(52 725177_?)_(?_52800 947)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 52,725,177 | 52,800,947 |
| nssv4415 | Remapped | Perfect | NC_000002.11:g.(52 746331_?)_(?_52786 020)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 52,746,331 | 52,786,020 |
| nssv6841 | Remapped | Perfect | NC_000002.11:g.(52 747927_?)_(?_52789 636)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 52,747,927 | 52,789,636 |
| nssv9348 | Remapped | Perfect | NC_000002.11:g.(52 748847_?)_(?_52807 896)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 52,748,847 | 52,807,896 |
| nssv11013 | Submitted genomic | NC_000002.9:g.(526 36828_?)_(?_527125 98)del35882 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 52,636,828 | 52,712,598 | ||
| nssv4415 | Submitted genomic | NC_000002.9:g.(526 57982_?)_(?_526976 71)del35600 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 52,657,982 | 52,697,671 | ||
| nssv6841 | Submitted genomic | NC_000002.9:g.(526 59578_?)_(?_527012 87)del35954 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 52,659,578 | 52,701,287 | ||
| nssv9348 | Submitted genomic | NC_000002.9:g.(526 60498_?)_(?_527195 47)del34891 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 52,660,498 | 52,719,547 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv9348 | 3 | SAMN00001588 | Multiple complete digestion | MCD analysis | Pass |
| nssv4415 | 5 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| nssv4415 | 6 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |