A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6375136



Internal ID21032689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127816252..128456391hg38UCSC Ensembl
chr3:127535095..128175234hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38640140
hg19640140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208480
Samples
Known GenesEEFSEC, KBTBD12, MGLL, RUVBL1, SEC61A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6375136
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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