A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv883030



Internal ID6290041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149535255..149627423hg19UCSC Ensembl
Outerchr5:149532107..149628644hg19UCSC Ensembl
Innerchr5:149515448..149607616hg18UCSC Ensembl
Outerchr5:149512300..149608837hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1546574
SamplesMS17208
Known GenesCAMK2A, CDX1, PDGFRB, SLC6A7
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv883030
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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