A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945262



Internal ID21365331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196948964..196948964hg38UCSC Ensembl
chr3:196675835..196675835hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190540
SamplesHG002
Known GenesPIGZ
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945262
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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