A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509285



Internal ID15476783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141306491..141505253hg38UCSC Ensembl
Outerchr8:142316590..142515353hg19UCSC Ensembl
Outerchr8:142385772..142584535hg18UCSC Ensembl
Outerchr8:142385772..142584535hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3815024
hg1915024
hg1815024
hg1715024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623549, nssv619538, nssv619537, nssv623548
SamplesNA18994, NA10860
Known GenesGPR20, LOC731779, MROH5, PTP4A3
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)nsv509285
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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