A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510709



Internal ID15826734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39282166..39352142hg38UCSC Ensembl
Outerchr17:37438419..37508395hg19UCSC Ensembl
Outerchr17:34691945..34761921hg18UCSC Ensembl
Outerchr17:34691945..34761921hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3869977
hg1969977
hg1869977
hg1769977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622717
SamplesNA18994
Known GenesFBXL20
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)nsv510709
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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