A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042417



Internal ID95991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132752534..132948682hg38UCSC Ensembl
chr10:134566038..134762186hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38196149
hg19196149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143716
Supporting Variants
Samples
Known GenesINPP5A, NKX6-2, TTC40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042417
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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