A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985442



Internal ID21894785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432928..112433107hg38UCSC Ensembl
chr2:113190505..113190684hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536084
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985442
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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