A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18139599



Internal ID20706639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130848368..130853770hg38UCSC Ensembl
chr6:131169508..131174910hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg385403
hg195403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6614019
Supporting Variants
Samples
Known GenesEPB41L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18139599
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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