A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347548



Internal ID21005101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101150401..101152600hg38UCSC Ensembl
chr2:101766863..101769062hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205767
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347548
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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