A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343511



Internal ID21001064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18553494..18559768hg38UCSC Ensembl
chr2:18734760..18741034hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg386275
hg196275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083120
Samples
Known GenesNT5C1B-RDH14, RDH14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343511
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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