A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133131



Internal ID19275817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45588714..45590320hg38UCSC Ensembl
Outerchr1:46054386..46055992hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381607
hg191607
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987952
SamplesKWS1
Known GenesNASP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133131
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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