A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv162n106



Internal ID22793990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121742226..121743636hg38UCSC Ensembl
chr1:121484024..121485434hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120196, nsv1142070
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv162n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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