A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4183n106



Internal ID22798011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137878212..137879054hg38UCSC Ensembl
chr9:140772664..140773506hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130615, nsv1135299
SamplesKWS2, KWS1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4183n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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