nsv4994556
- 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:67,742
- 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: 361 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 361 SVs from 59 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4994556 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 23,447,619 (-41, +29) | 23,515,360 (-30, +59) | ||
nsv4994556 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 23,458,940 (-41, +29) | 23,526,681 (-30, +59) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16574274 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16574274 | Submitted genomic | NC_000016.10:g.(23 447578_23447648)_( 23515330_23515419) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 23,447,619 (-41, +29) | 23,515,360 (-30, +59) | ||
nssv16574274 | Remapped | Perfect | NC_000016.9:g.(234 58899_23458969)_(2 3526651_23526740)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 23,458,940 (-41, +29) | 23,526,681 (-30, +59) |
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) |
---|---|---|---|
nssv16574274 | <0.001 | 2 | 29246 |