A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6405430



Internal ID21062983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76901982..77120694hg38UCSC Ensembl
chr5:76197807..76416519hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38218713
hg19218713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216603
Samples
Known GenesAGGF1, CRHBP, S100Z, SNORA47, ZBED3, ZBED3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6405430
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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