A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187091



Internal ID21325923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21190673..21190673hg38UCSC Ensembl
chr2:21413545..21413545hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948375
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187091
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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