A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062422



Internal ID20629462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64507389..64518292hg38UCSC Ensembl
chr1:64973072..64983975hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3810904
hg1910904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331550
Supporting Variants
Samples
Known GenesCACHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18062422
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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