A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980582



Internal ID54437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34998734..35004236hg38UCSC Ensembl
chr6:34966511..34972013hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg385503
hg195503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461877
Supporting Variants
Samples
Known GenesANKS1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980582
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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