A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4073n106



Internal ID20163430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78031084..78032584hg38UCSC Ensembl
chr9:80646000..80647500hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1113009, nsv1145253
SamplesKWS1, KWS2
Known GenesGNAQ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4073n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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