A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447638



Internal ID225934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47100309..47108809hg38UCSC Ensembl
chr2:47327448..47335948hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388501
hg198501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912005
Samples
Known GenesC2orf61
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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