A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6374376



Internal ID21031929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185200194..185407796hg38UCSC Ensembl
chr3:184917982..185125584hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38207603
hg19207603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212183
Samples
Known GenesEHHADH, MAP3K13, MIR5588
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6374376
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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