A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510719



Internal ID6096622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57039353..57104429hg19UCSC Ensembl
Outerchr17:54394135..54459211hg18UCSC Ensembl
Outerchr17:54394135..54459211hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg193797
hg183797
hg173797
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv622722
SamplesNA18994
Known GenesPPM1E, TRIM37
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)nsv510719
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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