nsv5339764
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 286 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 283 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5339764 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 41,609,548 | 41,609,548 | + |
| nsv5339764 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 41,750,068 | 41,750,068 | + |
| nsv5339764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 43,029,708 | 43,029,708 | + | ||
| nsv5339764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 43,170,228 | 43,170,228 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16411206 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16411206 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,609,548 | 41,609,548 | + |
| nssv16411206 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,750,068 | 41,750,068 | + |
| nssv16411206 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 43,029,708 | 43,029,708 | + | ||
| nssv16411206 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 43,170,228 | 43,170,228 | + |
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) |
|---|---|---|---|
| nssv16411206 | <0.001 | 1 | 16834 |