A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15184394



Internal ID21323202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7838420..7838420hg38UCSC Ensembl
chr17:7741738..7741738hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3940998
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15184394
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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