A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337453



Internal ID20995006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204673943..204686154hg38UCSC Ensembl
chr2:205538666..205550877hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3812212
hg1912212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084695
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337453
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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