A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623559



Internal ID15475446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:34110036..34218311hg38UCSC Ensembl
Outerchr9:34110034..34218309hg19UCSC Ensembl
Outerchr9:34100034..34208309hg18UCSC Ensembl
Outerchr9:34100034..34208309hg17UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg385296
hg195296
hg185296
hg175296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509300
Supporting Variants
SamplesNA18994
Known GenesDCAF12, UBAP1
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)nssv623559
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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