A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904090



Internal ID3545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70302444..70302751hg38UCSC Ensembl
chr1:70768127..70768434hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430851
Supporting Variants
Samples
Known GenesANKRD13C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904090
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.205276


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