A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618942



Internal ID15818746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20538240..20664924hg38UCSC Ensembl
Outerchr17:20441553..20568237hg19UCSC Ensembl
Outerchr17:20382145..20508829hg18UCSC Ensembl
Outerchr17:20382145..20508829hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38126685
hg19126685
hg18126685
hg17126685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510703
Supporting Variants
SamplesNA10860
Known GenesCDRT15L2
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)nssv618942
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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