A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057595



Internal ID106248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55917701..55918715hg38UCSC Ensembl
chr12:56311485..56312499hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499807
Supporting Variants
Samples
Known GenesWIBG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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