A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539463



Internal ID314407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132630595..132630595hg38UCSC Ensembl
chr10:134444099..134444099hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042393
Samples
Known GenesINPP5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539463
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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