A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216949



Internal ID20783989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:145734501..145736400hg38UCSC Ensembl
chr6:146055637..146057536hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6602115
Supporting Variants
Samples
Known GenesEPM2A, LOC100507557
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216949
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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