A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508415



Internal ID15480091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93790566..93839783hg38UCSC Ensembl
Outerchr1:94256122..94305339hg19UCSC Ensembl
Outerchr1:94028710..94077927hg18UCSC Ensembl
Outerchr1:93968143..94017360hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3849218
hg1949218
hg1849218
hg1749218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618980
SamplesNA10860
Known GenesBCAR3
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)nsv508415
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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