A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151695



Internal ID19195664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8869799..8873397hg38UCSC Ensembl
Outerchr1:143216999..143220600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383599
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003116
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151695
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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