A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702877



Internal ID126543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63737258..63737273hg38UCSC Ensembl
chr15:64029457..64029472hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425946
Supporting Variants
Samples
Known GenesHERC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702877
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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