A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv913792



Internal ID6275719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43784482..43795697hg19UCSC Ensembl
Outerchr21:43781110..43801075hg19UCSC Ensembl
Innerchr21:42657551..42668766hg18UCSC Ensembl
Outerchr21:42654179..42674144hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1531025
SamplesMS10311
Known GenesTFF1, TMPRSS3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv913792
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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