A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148117



Internal ID18852495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151593385..151598186hg38UCSC Ensembl
Outerchr2:152449899..152454700hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg384802
hg194802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001627
SamplesKWB1
Known GenesNEB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148117
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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