A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460649



Internal ID238623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149611842..149668426hg38UCSC Ensembl
chr5:148991405..149047989hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3856585
hg1956585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975641
Samples
Known GenesARHGEF37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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