A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509575



Internal ID15477073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74018397..74102404hg38UCSC Ensembl
Outerchr15:74310738..74394745hg19UCSC Ensembl
Outerchr15:72097791..72181798hg18UCSC Ensembl
Outerchr15:72097791..72181798hg17UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3833781
hg1933781
hg1833781
hg1733781
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619668
SamplesNA10860
Known GenesGOLGA6A, PML
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)nsv509575
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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