A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509577



Internal ID15825603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:79001842..79083974hg38UCSC Ensembl
Outerchr15:79294184..79376316hg19UCSC Ensembl
Outerchr15:77081239..77163371hg18UCSC Ensembl
Outerchr15:77081239..77163371hg17UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg383090
hg193090
hg183090
hg173090
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619671
SamplesNA10860
Known GenesRASGRF1
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)nsv509577
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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