A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5639165



Internal ID21587470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46282383..46282383hg38UCSC Ensembl
chr6:46250120..46250120hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17143493
SamplesHG03125
Known GenesRCAN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5639165
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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