A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv898631



Internal ID6305642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6215634..6292975hg19UCSC Ensembl
Outerchr12:6202818..6302009hg19UCSC Ensembl
Innerchr12:6085895..6163236hg18UCSC Ensembl
Outerchr12:6073079..6172270hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1585951
SamplesIS37646
Known GenesVWF
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv898631
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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