nsv4934787
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:622,446
- 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: 1534 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 881 SVs from 76 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4934787 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 60,784,621 (-1) | 61,407,066 (-1, +1) | ||
nsv4934787 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 57,752,368 (-1) | 58,087,659 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16492110 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16492110 | Submitted genomic | NC_000006.12:g.(60 784620_?)_(6140706 5_61407067)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 60,784,621 (-1) | 61,407,066 (-1, +1) | ||
nssv16492110 | Remapped | Pass | NC_000006.11:g.(57 752367_?)_(5808765 8_58087660)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 57,752,368 (-1) | 58,087,659 (-1, +1) |
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) |
---|---|---|---|
nssv16492110 | <0.001 | 1 | 29246 |