A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv872417



Internal ID6279428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150618839..150756907hg19UCSC Ensembl
Outerchr1:150618632..150759979hg19UCSC Ensembl
Innerchr1:148885463..149023531hg18UCSC Ensembl
Outerchr1:148885256..149026603hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1514673
SamplesSP56047
Known GenesCTSS, GOLPH3L, HORMAD1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv872417
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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