A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510999



Internal ID6096595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18381653..18478745hg19UCSC Ensembl
Outerchr11:18338229..18435321hg18UCSC Ensembl
Outerchr11:18338229..18435321hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg1984
hg1884
hg1784
Variant TypeCNV Complex
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv618611
SamplesCHM
Known GenesGTF2H1, LDHA, LDHAL6A, LDHC
Method
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)nsv510999
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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