A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916600



Internal ID11773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432900..112433168hg38UCSC Ensembl
chr2:113190477..113190745hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139863
Supporting Variants
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916600
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.13679


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