A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509074



Internal ID15825100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76187733..76206912hg38UCSC Ensembl
Outerchr5:75483558..75502737hg19UCSC Ensembl
Outerchr5:75519314..75538493hg18UCSC Ensembl
Outerchr5:75519314..75538493hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383156
hg193156
hg183156
hg173156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618040
SamplesCHM
Known GenesSV2C
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)nsv509074
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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