A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1801n106



Internal ID22795629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50694643..50695543hg38UCSC Ensembl
chr19:51197900..51198800hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1118835, nsv1112749
SamplesKWS2, KWS1
Known GenesSHANK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1801n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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