A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv80n106



Internal ID22793908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47073528..47076028hg38UCSC Ensembl
chr1:47539200..47541700hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115342, nsv1110129
SamplesKWS2, KWS1
Known GenesCYP4Z1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv80n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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