nsv4966574
- 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:1,068
- 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: 411 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4966574 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,035,794 | 74,036,861 | ||
| nsv4966574 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 73,450,124 | 73,451,191 |
| nsv4966574 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,565,030 | 1,566,097 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16491045 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16491045 | Submitted genomic | NC_000007.14:g.740 35794_74036861del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,035,794 | 74,036,861 | ||
| nssv16491045 | Remapped | Perfect | NW_003871064.1:g.1 565030_1566097del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,565,030 | 1,566,097 |
| nssv16491045 | Remapped | Perfect | NC_000007.13:g.734 50124_73451191del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 73,450,124 | 73,451,191 |
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) |
|---|---|---|---|
| nssv16491045 | <0.001 | 2 | 29246 |