A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509401



Internal ID15825427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:34254986..34329012hg38UCSC Ensembl
Outerchr11:34276533..34350559hg19UCSC Ensembl
Outerchr11:34233109..34307135hg18UCSC Ensembl
Outerchr11:34233109..34307135hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385308
hg195308
hg185308
hg175308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621189
SamplesNA15510
Known GenesABTB2
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)nsv509401
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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