A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125446



Internal ID18910084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1029677..1030187hg38UCSC Ensembl
Outerchr1:965057..965567hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983619
SamplesKWS2
Known GenesAGRN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125446
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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