A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13684055



Internal ID21205915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41730128..41730128hg38UCSC Ensembl
chr17:39886380..39886380hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2797593
Supporting Variants
Samples
Known GenesHAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13684055
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.84375


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