nsv4966644
- 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:2,617
- 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: 119 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 13 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4966644 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 98,868,494 | 98,871,110 | ||
| nsv4966644 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 98,466,117 | 98,468,733 |
| nsv4966644 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 237,676 | 240,292 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16492888 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16492888 | Submitted genomic | NC_000007.14:g.988 68494_98871110del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 98,868,494 | 98,871,110 | ||
| nssv16492888 | Remapped | Perfect | NW_003571041.1:g.2 37676_240292del | GRCh37.p13 | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 237,676 | 240,292 |
| nssv16492888 | Remapped | Perfect | NC_000007.13:g.984 66117_98468733del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 98,466,117 | 98,468,733 |
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) |
|---|---|---|---|
| nssv16492888 | <0.001 | 1 | 29246 |