A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185328



Internal ID21324137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118695906..118695906hg38UCSC Ensembl
chr2:119453482..119453482hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946588
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185328
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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