A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510714



Internal ID6099035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44033412..44104851hg19UCSC Ensembl
Outerchr17:41389278..41460698hg18UCSC Ensembl
Outerchr17:41389278..41460698hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg193139
hg183139
hg173139
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv618947
SamplesNA10860
Known GenesMAPT, STH
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)nsv510714
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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