A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508651



Internal ID15480327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94101134..94147304hg38UCSC Ensembl
Outerchr11:93834300..93880470hg19UCSC Ensembl
Outerchr11:93473948..93520118hg18UCSC Ensembl
Outerchr11:93473948..93520118hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3846171
hg1946171
hg1846171
hg1746171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622582
SamplesNA18994
Known GenesHEPHL1, PANX1
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)nsv508651
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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