nsv5033207
- 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:958
- 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: 265 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5033207 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 41,208,338 (-62, +1) | 41,209,295 (-3, +44) | ||
nsv5033207 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 42,580,265 (-62, +1) | 42,581,222 (-3, +44) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16592549 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16592549 | Submitted genomic | NC_000021.9:g.(412 08276_41208339)_(4 1209292_41209339)d up | GRCh38 (hg38) | NC_000021.9 | Chr21 | 41,208,338 (-62, +1) | 41,209,295 (-3, +44) | ||
nssv16592549 | Remapped | Perfect | NC_000021.8:g.(425 80203_42580266)_(4 2581219_42581266)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 42,580,265 (-62, +1) | 42,581,222 (-3, +44) |
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) |
---|---|---|---|
nssv16592549 | <0.001 | 1 | 29246 |