A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141572



Internal ID18931763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7378678..7495378hg38UCSC Ensembl
Outerchr8:7236200..7352900hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38116701
hg19116701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993079
SamplesKWS2
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB4B, SPAG11B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141572
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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