A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4185n106



Internal ID20163542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882748..137891148hg38UCSC Ensembl
chr9:140777200..140785600hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388401
hg198401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141652, nsv1119319
SamplesKWS2, KWS1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4185n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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