A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1513n106



Internal ID19019622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77487622..77487768hg38UCSC Ensembl
chr17:75483704..75483850hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1116427, nsv1130708
SamplesKWS1, KWS2
Known GenesSEPT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1513n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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