A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903223



Internal ID2964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869942..52869942hg38UCSC Ensembl
chr1:53335614..53335614hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541749
Supporting Variants
Samples
Known GenesZYG11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903223
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.368666


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