A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129807



Internal ID19261650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:64643098..64643170hg38UCSC Ensembl
Outerchr8:65555655..65555727hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964911
SamplesKWS1
Known GenesCYP7B1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129807
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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