A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344001



Internal ID21001554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188978688..188979298hg38UCSC Ensembl
chr2:189843414..189844024hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083488
Samples
Known GenesCOL3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344001
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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