A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349886



Internal ID21007439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182278175..182278696hg38UCSC Ensembl
chr2:183142902..183143423hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18081025
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349886
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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