nsv4772740
- 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:4,720
- 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: 92 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4772740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 23,413,996 | 23,418,715 |
| nsv4772740 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_014040926.1 | Chr1|NW_01 4040926.1 | 183,975 | 188,694 |
| nsv4772740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 23,740,489 | 23,745,208 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16312227 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16312227 | Remapped | Perfect | NW_014040926.1:g.1 83975_188694del | GRCh38.p12 | Second Pass | NW_014040926.1 | Chr1|NW_01 4040926.1 | 183,975 | 188,694 |
| nssv16312227 | Remapped | Perfect | NC_000001.11:g.234 13996_23418715del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 23,413,996 | 23,418,715 |
| nssv16312227 | Submitted genomic | NC_000001.10:g.237 40489_23745208del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 23,740,489 | 23,745,208 |
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) |
|---|---|---|---|
| nssv16312227 | <0.001 | 1 | 16834 |