A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510726



Internal ID15826751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70453735..70466300hg38UCSC Ensembl
Outerchr17:68449876..68462441hg19UCSC Ensembl
Outerchr17:65961471..65974036hg18UCSC Ensembl
Outerchr17:65961471..65974036hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3812566
hg1912566
hg1812566
hg1712566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618952, nssv620105, nssv622725, nssv617432
SamplesCHM, NA15510, NA18994, NA10860
Known Genes
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)nsv510726
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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