A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346049



Internal ID21003602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232650601..232667800hg38UCSC Ensembl
chr2:233515311..233532510hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3817200
hg1917200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206236
Samples
Known GenesEFHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346049
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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