A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201396



Internal ID22350716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181774301..181774861hg38UCSC Ensembl
chr1:181743437..181743997hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299008, nssv14299009
SamplesHG00731, HG00733
Known GenesCACNA1E
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201396
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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