nsv4863723
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,312
- Publication(s):Abel et al. 2020
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: 615 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 615 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4863723 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 31,391,508 (-16, +16) | 31,392,819 (-18, +18) |
| nsv4863723 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 3,677,346 (-16, +16) | 3,678,651 (-18, +18) |
| nsv4863723 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,564,894 (-16, +16) | 3,566,199 (-18, +18) |
| nsv4863723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 31,683,711 (-16, +16) | 31,685,022 (-18, +18) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16385969 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16385969 | Remapped | Good | NT_187660.1:g.(367 7330_3677362)_(367 8633_3678669)dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 3,677,346 (-16, +16) | 3,678,651 (-18, +18) |
| nssv16385969 | Remapped | Good | NW_011332701.1:g.( 3564878_3564910)_( 3566181_3566217)du p | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,564,894 (-16, +16) | 3,566,199 (-18, +18) |
| nssv16385969 | Remapped | Perfect | NC_000015.10:g.(31 391492_31391524)_( 31392801_31392837) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,391,508 (-16, +16) | 31,392,819 (-18, +18) |
| nssv16385969 | Submitted genomic | NC_000015.9:g.(316 83695_31683727)_(3 1685004_31685040)d up | GRCh37 (hg19) | NC_000015.9 | Chr15 | 31,683,711 (-16, +16) | 31,685,022 (-18, +18) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16385969 | <0.001 | 5 | 16834 |