A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15184330



Internal ID21323131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6094838..6094838hg38UCSC Ensembl
chr17:5998158..5998158hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947723
Supporting Variants
SamplesHG002
Known GenesWSCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15184330
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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