A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498763



Internal ID275746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32086496..32086931hg38UCSC Ensembl
chr14:32555702..32556137hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693581
Samples
Known GenesARHGAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498763
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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