A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3952086



Internal ID21372155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182984423..182984423hg38UCSC Ensembl
chr2:183849151..183849151hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187254
SamplesHG002
Known GenesNCKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3952086
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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