A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18235237



Internal ID20802277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82274383..82540691hg38UCSC Ensembl
chr7:81903699..82170007hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38266309
hg19266309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6600405
Supporting Variants
Samples
Known GenesCACNA2D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18235237
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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