A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv870521



Internal ID6277532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103413598..103459537hg19UCSC Ensembl
Outerchr1:103409558..103466917hg19UCSC Ensembl
Innerchr1:103186186..103232125hg18UCSC Ensembl
Outerchr1:103182146..103239505hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1582899
SamplesIS36219
Known GenesCOL11A1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv870521
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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