A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079696



Internal ID20646736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164566745..164574418hg38UCSC Ensembl
chr2:165423255..165430928hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg387674
hg197674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340317
Supporting Variants
Samples
Known GenesGRB14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079696
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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