A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337424



Internal ID20994977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188736301..188737500hg38UCSC Ensembl
chr2:189601028..189602227hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082901
Samples
Known GenesDIRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337424
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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