A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340134



Internal ID20997687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201115401..201118100hg38UCSC Ensembl
chr2:201980124..201982823hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208288
Samples
Known GenesCFLAR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340134
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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