A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056931



Internal ID20623972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201053286..201053644hg38UCSC Ensembl
chr1:201022414..201022772hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334399
Supporting Variants
Samples
Known GenesCACNA1S
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056931
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00106


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