nsv4772739
- 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:20,818
- 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: 149 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4772739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 23,411,213 (-1, +2) | 23,432,030 (-3, +1) |
| nsv4772739 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_014040926.1 | Chr1|NW_01 4040926.1 | 181,192 (-1, +2) | 202,009 (-3, +1) |
| nsv4772739 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 23,737,706 (-1, +2) | 23,758,523 (-3, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16312226 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16312226 | Remapped | Perfect | NW_014040926.1:g.( 181191_181194)_(20 2006_202010)del | GRCh38.p12 | Second Pass | NW_014040926.1 | Chr1|NW_01 4040926.1 | 181,192 (-1, +2) | 202,009 (-3, +1) |
| nssv16312226 | Remapped | Perfect | NC_000001.11:g.(23 411212_23411215)_( 23432027_23432031) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 23,411,213 (-1, +2) | 23,432,030 (-3, +1) |
| nssv16312226 | Submitted genomic | NC_000001.10:g.(23 737705_23737708)_( 23758520_23758524) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 23,737,706 (-1, +2) | 23,758,523 (-3, +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) |
|---|---|---|---|
| nssv16312226 | <0.001 | 1 | 16834 |