A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227683



Internal ID22370100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56220804..56225082hg38UCSC Ensembl
chr16:56254716..56258994hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg384279
hg194279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387817
SamplesNA19238
Known GenesGNAO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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