nsv5024672
- 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:780,988
- 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: 5779 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 5778 SVs from 119 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5024672 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 42,797,480 (-74, +2) | 43,578,467 (+133) | ||
nsv5024672 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 43,301,632 (-74, +2) | 44,082,619 (+133) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16590540 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16590540 | Submitted genomic | NC_000019.10:g.(42 797406_42797482)_( ?_43578600)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 42,797,480 (-74, +2) | 43,578,467 (+133) | ||
nssv16590540 | Remapped | Perfect | NC_000019.9:g.(433 01558_43301634)_(? _44082752)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,301,632 (-74, +2) | 44,082,619 (+133) |
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) |
---|---|---|---|
nssv16590540 | <0.001 | 1 | 29246 |