A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1292n106



Internal ID19019401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6730401..6730466hg38UCSC Ensembl
chr16:6780402..6780467hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1113751, nsv1116109
SamplesKWS1, KWS2
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1292n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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