A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv871947



Internal ID6278958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43291486..43307180hg19UCSC Ensembl
Outerchr1:43291061..43307632hg19UCSC Ensembl
Innerchr1:43064073..43079767hg18UCSC Ensembl
Outerchr1:43063648..43080219hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499637
SamplesSP50066
Known GenesERMAP
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv871947
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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