A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508184



Internal ID15824211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179031657..179100692hg38UCSC Ensembl
Outerchr2:179896384..179965419hg19UCSC Ensembl
Outerchr2:179604629..179673664hg18UCSC Ensembl
Outerchr2:179721890..179790925hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3869036
hg1969036
hg1869036
hg1769036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618700
SamplesNA10860
Known GenesCCDC141
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)nsv508184
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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