nsv4804733
- 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:523
- 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: 362 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4804733 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 239,817,741 | 239,818,263 |
| nsv4804733 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332689.1 | Chr2|NW_01 1332689.1 | 120,838 | 121,360 |
| nsv4804733 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 240,739,435 | 240,739,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16391705 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16391705 | Remapped | Perfect | NW_011332689.1:g.1 20838_121360dup | GRCh38.p12 | Second Pass | NW_011332689.1 | Chr2|NW_01 1332689.1 | 120,838 | 121,360 |
| nssv16391705 | Remapped | Perfect | NC_000002.12:g.239 817741_239818263du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 239,817,741 | 239,818,263 |
| nssv16391705 | Submitted genomic | NC_000002.11:g.240 739435_240739957du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 240,739,435 | 240,739,957 |
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) |
|---|---|---|---|
| nssv16391705 | 0.336 | 5660 | 16834 |