A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133217



Internal ID19279463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:56710154..56727221hg38UCSC Ensembl
Outerchr15:57002352..57019419hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3817068
hg1917068
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988099
SamplesKWS1
Known GenesZNF280D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133217
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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