A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337412



Internal ID20994965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196166401..196171500hg38UCSC Ensembl
chr2:197031125..197036224hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208237
Samples
Known GenesSTK17B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337412
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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