A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348253



Internal ID21005806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196926401..196927100hg38UCSC Ensembl
chr2:197791125..197791824hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082549
Samples
Known GenesPGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348253
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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