A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352368



Internal ID21009921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44584701..44588400hg38UCSC Ensembl
chr2:44811840..44815539hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209799
Samples
Known GenesCAMKMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352368
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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