A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509308



Internal ID15825334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88649745..88683134hg38UCSC Ensembl
Outerchr9:91264660..91298049hg19UCSC Ensembl
Outerchr9:90454480..90487869hg18UCSC Ensembl
Outerchr9:88494214..88527603hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg385304
hg195304
hg185304
hg175304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623562, nssv619552, nssv620924
SamplesNA15510, NA18994, NA10860
Known GenesLOC286238
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)nsv509308
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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