A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079697



Internal ID20646737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164568340..164568853hg38UCSC Ensembl
chr2:165424850..165425363hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339382
Supporting Variants
Samples
Known GenesGRB14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079697
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00117


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