A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv888792



Internal ID6295803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100256228..100321790hg19UCSC Ensembl
Outerchr7:100252918..100329189hg19UCSC Ensembl
Innerchr7:100094164..100159726hg18UCSC Ensembl
Outerchr7:100090854..100167125hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1509898
SamplesSP54956
Known GenesACTL6B, EPO, GIGYF1, GNB2, POP7
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv888792
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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