A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509667



Internal ID15825693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72838756..72864957hg38UCSC Ensembl
Outerchr17:70834895..70861096hg19UCSC Ensembl
Outerchr17:68346490..68372691hg18UCSC Ensembl
Outerchr17:68346490..68372691hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg388193
hg198193
hg188193
hg178193
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618124, nssv619718, nssv621045
SamplesCHM, NA15510, NA10860
Known GenesSLC39A11
MethodOptical mapping
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)nsv509667
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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