A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134914



Internal ID18932513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27660651..27660737hg38UCSC Ensembl
Outerchr8:27518168..27518254hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3799n106
Supporting Variantsnssv3988410
SamplesKWS1
Known GenesSCARA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134914
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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