A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339399



Internal ID20996952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204671189..204671716hg38UCSC Ensembl
chr2:205535912..205536439hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084694
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339399
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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