A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1083n106



Internal ID22794911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50942182..50942829hg38UCSC Ensembl
chr14:51408900..51409547hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130338, nsv1135021, nsv1135333, nsv1141562
SamplesKWS2, KWS1
Known GenesPYGL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1083n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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