A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509244



Internal ID15825270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1756513..1850704hg38UCSC Ensembl
Outerchr8:1704679..1798870hg19UCSC Ensembl
Outerchr8:1692086..1786277hg18UCSC Ensembl
Outerchr8:1692086..1786277hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg384487
hg194487
hg184487
hg174487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620899
SamplesNA15510
Known GenesARHGEF10, CLN8, MIR596
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)nsv509244
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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