A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv898628



Internal ID6305639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6045261..6175579hg19UCSC Ensembl
Outerchr12:6041182..6183181hg19UCSC Ensembl
Innerchr12:5915522..6045840hg18UCSC Ensembl
Outerchr12:5911443..6053442hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1566572
SamplesIS30781
Known GenesANO2, VWF
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv898628
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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