A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110515



Internal ID19277634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53947140..53949340hg38UCSC Ensembl
Outerchr8:54859700..54861900hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960168
SamplesKWS1
Known GenesRGS20
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110515
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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