A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710305



Internal ID133971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87744095..87752588hg38UCSC Ensembl
chr16:87777701..87786194hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg388494
hg198494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519990
Supporting Variants
Samples
Known GenesKLHDC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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