A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564073



Internal ID22432808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130854323..130854323hg38UCSC Ensembl
chr6:131175463..131175463hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14330970
SamplesHG00732
Known GenesEPB41L2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564073
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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