A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342741



Internal ID21000294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232605682..232607821hg38UCSC Ensembl
chr2:233470392..233472531hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382140
hg192140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086649
Samples
Known GenesEFHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342741
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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