A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507842



Internal ID6096801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48248930..48254930hg19UCSC Ensembl
Outerchr17:45603929..45609929hg18UCSC Ensembl
Outerchr17:45603929..45609929hg17UCSC Ensembl
Cytoband17q21.33
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 Variantsnssv617920, nssv619185, nssv623224
SamplesCHM, NA18994, NA10860
Known GenesHILS1, SGCA
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)nsv507842
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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