A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1179n106



Internal ID22795007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:24892502..24892596hg38UCSC Ensembl
chr15:25137649..25137743hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111113, nsv1116762
SamplesKWS2, KWS1
Known GenesSNRPN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1179n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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