A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509713



Internal ID15825739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240183830..240199909hg38UCSC Ensembl
Outerchr1:240347130..240363209hg19UCSC Ensembl
Outerchr1:238413753..238429832hg18UCSC Ensembl
Outerchr1:236673171..236689250hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383489
hg193489
hg183489
hg173489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621114, nssv623817
SamplesNA15510, NA18994
Known GenesFMN2
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)nsv509713
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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