A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509828



Internal ID6097206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:63878954..63884954hg19UCSC Ensembl
Outerchr3:63853994..63859994hg18UCSC Ensembl
Outerchr3:63853994..63859994hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv623904
SamplesNA18994
Known GenesATXN7
Method
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague et al 2010
Pubmed ID20534489
Accession Number(s)nsv509828
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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