A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349917



Internal ID21007470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46693101..46704300hg38UCSC Ensembl
chr2:46920240..46931439hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811200
hg1911200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209822
Samples
Known GenesSOCS5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349917
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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