A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509445



Internal ID15476943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119609244..119695172hg38UCSC Ensembl
Outerchr11:119479956..119565882hg19UCSC Ensembl
Outerchr11:118985166..119071092hg18UCSC Ensembl
Outerchr11:118985166..119071092hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384210
hg194210
hg184210
hg174210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619489
SamplesNA10860
Known GenesPVRL1
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)nsv509445
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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