A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509305



Internal ID15825331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87900750..87943526hg38UCSC Ensembl
Outerchr9:90515665..90558441hg19UCSC Ensembl
Outerchr9:89705485..89748261hg18UCSC Ensembl
Outerchr9:87745219..87787995hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg386234
hg196234
hg186234
hg176234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623560
SamplesNA18994
Known GenesSPATA31C1
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)nsv509305
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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