A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6605378



Internal ID20978449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:145732401..145743600hg38UCSC Ensembl
chr6:146053537..146064736hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3811200
hg1911200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216948
Samples
Known GenesEPM2A, LOC100507557
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6605378
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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