A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917309



Internal ID12292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84971083..84971147hg38UCSC Ensembl
chr2:85198206..85198270hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443441
Supporting Variants
Samples
Known GenesKCMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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