A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185423



Internal ID21324228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32948020..32948020hg38UCSC Ensembl
chr17:31275038..31275038hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952990
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185423
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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