A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993157



Internal ID18879329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137882748..137891148hg38UCSC Ensembl
Outerchr9:140777200..140785600hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388401
hg198401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141652
Supporting Variants
SamplesKWS2
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993157
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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