A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv900082



Internal ID6307093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52570728..52634968hg19UCSC Ensembl
Outerchr13:52555288..52709938hg19UCSC Ensembl
Innerchr13:51468729..51532969hg18UCSC Ensembl
Outerchr13:51453289..51607939hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1573621, nssv1590512
SamplesIS33472, IS38520
Known GenesALG11, ATP7B, NEK3, NEK5, UTP14C
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv900082
Frequency
Sample Size6533
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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