A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216948



Internal ID20783988
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 StatusS
Merged Variantsnsv6605378
Supporting Variants
Samples
Known GenesEPM2A, LOC100507557
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216948
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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