A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186243



Internal ID21325057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216560105..216560105hg38UCSC Ensembl
chr2:217424828..217424828hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954650
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186243
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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