A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346334



Internal ID21003887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232653587..232696389hg38UCSC Ensembl
chr2:233518297..233561099hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3842803
hg1942803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086655
Samples
Known GenesEFHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346334
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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