A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348646



Internal ID21006199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85587416..85589876hg38UCSC Ensembl
chr2:85814539..85816999hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206448
Samples
Known GenesVAMP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348646
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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