A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961018



Internal ID22735977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65357984..65357984hg38UCSC Ensembl
chr2:65585118..65585118hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398879
Samples
Known GenesSPRED2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961018
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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