A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17616239



Internal ID21808286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55955863..55955863hg38UCSC Ensembl
chr12:56349647..56349647hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6084837
Supporting Variants
Samples
Known GenesPMEL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17616239
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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