A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509567



Internal ID15477065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:34345031..34396055hg38UCSC Ensembl
Outerchr15:34637232..34688256hg19UCSC Ensembl
Outerchr15:32424524..32475548hg18UCSC Ensembl
Outerchr15:32424524..32475548hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg385027
hg195027
hg185027
hg175027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619667, nssv621009, nssv623673, nssv618111
SamplesCHM, NA18994, NA15510, NA10860
Known GenesGOLGA8A, LPCAT4, MIR1233-1, MIR1233-2, NUTM1
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)nsv509567
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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