A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508162



Internal ID15824189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113225466..113342389hg38UCSC Ensembl
Outerchr2:113983043..114099966hg19UCSC Ensembl
Outerchr2:113699514..113816436hg18UCSC Ensembl
Outerchr2:113699274..113816196hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38116924
hg19116924
hg18116923
hg17116923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622815
SamplesNA18994
Known GenesPAX8, PAX8-AS1
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)nsv508162
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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