A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185430



Internal ID21324235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41730127..41730127hg38UCSC Ensembl
chr17:39886379..39886379hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3942473
Supporting Variants
SamplesHG002
Known GenesHAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185430
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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