A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189820



Internal ID21328665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81750672..81750672hg38UCSC Ensembl
chr3:81799823..81799823hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3938427
Supporting Variants
SamplesHG002
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189820
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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