A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139250



Internal ID338434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134996915..135993007hg38UCSC Ensembl
chr3:134715757..135711849hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38996093
hg19996093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939288
Samples
Known GenesEPHB1, PPP2R3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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