A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947896



Internal ID21367965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241590953..241590953hg38UCSC Ensembl
chr2:242530368..242530368hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382184
hg192184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188886
SamplesHG002
Known GenesTHAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947896
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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