A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338956



Internal ID20996509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53990618..54474836hg38UCSC Ensembl
chr2:54217755..54701973hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38484219
hg19484219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209910
Samples
Known GenesACYP2, C2orf73, SPTBN1, TSPYL6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338956
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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