A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486952



Internal ID264302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:26505427..26505516hg38UCSC Ensembl
chr10:26794356..26794445hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032299
Samples
Known GenesAPBB1IP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486952
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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