A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509306



Internal ID15825332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88085511..88168702hg38UCSC Ensembl
Outerchr9:90700426..90783617hg19UCSC Ensembl
Outerchr9:89890246..89973437hg18UCSC Ensembl
Outerchr9:87929980..88013171hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg385659
hg195659
hg185659
hg175659
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619550
SamplesNA10860
Known GenesSPATA31C2
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)nsv509306
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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