A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv47n106



Internal ID22793875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16506005..16517005hg38UCSC Ensembl
chr1:16832500..16843500hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811001
hg1911001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128589, nsv1115338
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv47n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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