A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707693



Internal ID131359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30530486..30536486hg38UCSC Ensembl
chr16:30541807..30547807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144604
Supporting Variants
Samples
Known GenesZNF747
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707693
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.240343


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