A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346966



Internal ID21004519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239693567..240452089hg38UCSC Ensembl
chr2:240615261..241391506hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38758523
hg19776246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208391
Samples
Known GenesGPC1, LOC150935, MIR4786, MYEOV2, NDUFA10, OR6B2, OR6B3, OTOS, PP14571, PRR21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346966
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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