A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508649



Internal ID15824676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93407733..93447926hg38UCSC Ensembl
Outerchr11:93140899..93181092hg19UCSC Ensembl
Outerchr11:92780547..92820740hg18UCSC Ensembl
Outerchr11:92780547..92820740hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3840194
hg1940194
hg1840194
hg1740194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619982, nssv622576, nssv618781, nssv617391
SamplesCHM, NA15510, NA18994, NA10860
Known GenesCCDC67
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)nsv508649
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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