A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510706



Internal ID15478202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:33437824..33596377hg38UCSC Ensembl
Outerchr17:31764842..31923396hg19UCSC Ensembl
Outerchr17:28788955..28947509hg18UCSC Ensembl
Outerchr17:28788955..28947509hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38158554
hg19158555
hg18158555
hg17158555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620099
SamplesNA15510
Known GenesAA06, ASIC2
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)nsv510706
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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