A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185079



Internal ID21323882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76050728..76050728hg38UCSC Ensembl
chr17:74046809..74046809hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933093
Supporting Variants
SamplesHG002
Known GenesSRP68
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185079
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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