A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv889076



Internal ID6296087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117086613..117143602hg19UCSC Ensembl
Outerchr7:117064625..117147547hg19UCSC Ensembl
Innerchr7:116873849..116930838hg18UCSC Ensembl
Outerchr7:116851861..116934783hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1565715
SamplesIS30508
Known GenesASZ1, CFTR
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv889076
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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