A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618940



Internal ID15818744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:14151643..14174490hg38UCSC Ensembl
Outerchr17:14054960..14077807hg19UCSC Ensembl
Outerchr17:13995685..14018532hg18UCSC Ensembl
Outerchr17:13995685..14018532hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3822848
hg1922848
hg1822848
hg1722848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510699
Supporting Variants
SamplesNA10860
Known GenesCOX10
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)nssv618940
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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