A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147916



Internal ID18849572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46374538..46377840hg38UCSC Ensembl
Outerchr10:47745799..47749100hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383303
hg193302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996704
SamplesKWB1
Known GenesANXA8L1, ANXA8L2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147916
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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