A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv878456



Internal ID6285467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3231661..3461900hg19UCSC Ensembl
Outerchr4:3215835..3467519hg19UCSC Ensembl
Innerchr4:3201459..3431698hg18UCSC Ensembl
Outerchr4:3185633..3437317hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1530494
SamplesMS10311
Known GenesC4orf44, DOK7, HGFAC, HTT, RGS12
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv878456
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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