A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947500



Internal ID32369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1927016..1927067hg38UCSC Ensembl
chr4:1928743..1928794hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398760
Supporting Variants
Samples
Known GenesWHSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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