A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147595



Internal ID19197122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:260348..295149hg38UCSC Ensembl
Outerchr1:230099..264900hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3834802
hg1934802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996382
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147595
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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