A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343414



Internal ID21000967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178122125..178122606hg38UCSC Ensembl
chr2:178986852..178987333hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082722
Samples
Known GenesRBM45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343414
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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