A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145897



Internal ID19198985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69116516..69120117hg38UCSC Ensembl
Outerchr1:69582199..69585800hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997258
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1145897
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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