A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057637



Internal ID106280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56311739..56312758hg38UCSC Ensembl
chr12:56705523..56706542hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500408
Supporting Variants
Samples
Known GenesCNPY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057637
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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