A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185054



Internal ID21323857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73269132..73269132hg38UCSC Ensembl
chr17:71265271..71265271hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927361
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185054
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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