A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709100



Internal ID132766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66570345..66578191hg38UCSC Ensembl
chr16:66604248..66612094hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg387847
hg197847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517781
Supporting Variants
Samples
Known GenesCKLF-CMTM1, CMTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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