A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508155



Internal ID15479831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:96268957..96472565hg38UCSC Ensembl
Outerchr2:96934695..97138302hg19UCSC Ensembl
Outerchr2:96298422..96502029hg18UCSC Ensembl
Outerchr2:96356569..96560176hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38203609
hg19203608
hg18203608
hg17203608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620186
SamplesNA15510
Known GenesCIAO1, ITPRIPL1, NCAPH, SNRNP200
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)nsv508155
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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