A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001760



Internal ID19192515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115148378..115153479hg38UCSC Ensembl
Outerchr1:115690999..115696100hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148250
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001760
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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