A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189798



Internal ID21328643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216050559..216050559hg38UCSC Ensembl
chr1:216223901..216223901hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939213
Supporting Variants
SamplesHG002
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189798
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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