A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142332



Internal ID19255364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44863120..44863272hg38UCSC Ensembl
Outerchr21:46283035..46283187hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979505, nssv3962508
SamplesKWS2, KWS1
Known GenesPTTG1IP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142332
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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