A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507849



Internal ID6096707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57130129..57136129hg19UCSC Ensembl
Outerchr17:54484911..54490911hg18UCSC Ensembl
Outerchr17:54484911..54490911hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv623228, nssv620616, nssv617924
SamplesCHM, NA18994, NA15510
Known GenesTRIM37
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)nsv507849
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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