A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6360620



Internal ID21018173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130343905..130349648hg38UCSC Ensembl
chr3:130062748..130068491hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385744
hg195744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18093275
Samples
Known GenesCOL6A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6360620
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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