A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081953



Internal ID20648993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196054207..196061573hg38UCSC Ensembl
chr2:196918931..196926297hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg387367
hg197367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338662
Supporting Variants
Samples
Known GenesDNAH7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081953
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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