A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4184n106



Internal ID20163541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137878278..137882759hg38UCSC Ensembl
chr9:140772730..140777211hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384482
hg194482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130616, nsv1120967, nsv1132106
SamplesKWS2, KWS1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4184n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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