A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336585



Internal ID20994138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28879126..29482141hg38UCSC Ensembl
chr2:29101992..29705007hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38603016
hg19603016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209156
Samples
Known GenesALK, C2orf71, CLIP4, FAM179A, SNORD53, SNORD92, WDR43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336585
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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