A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709448



Internal ID133114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57106612..57106699hg38UCSC Ensembl
chr16:57140524..57140611hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523309
Supporting Variants
Samples
Known GenesCPNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.010771


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