A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349076



Internal ID21006629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216433714..216434089hg38UCSC Ensembl
chr2:217298437..217298812hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085774
Samples
Known GenesSMARCAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349076
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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