A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192404



Internal ID22342997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161055784..161055935hg38UCSC Ensembl
chr1:161025574..161025725hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288614, nssv14288615
SamplesHG00512, HG00732
Known GenesARHGAP30
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192404
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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