A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348824



Internal ID21006377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32271928..32358984hg38UCSC Ensembl
chr2:32496997..32584052hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3887057
hg1987056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3823n223
Supporting Variantsnssv18208202
Samples
Known GenesBIRC6, YIPF4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348824
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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