A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510056



Internal ID6097390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:144302570..144308570hg19UCSC Ensembl
Outerchr6:144344263..144350263hg18UCSC Ensembl
Outerchr6:144344263..144350263hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv618248, nssv622128, nssv624016
SamplesCHM, NA18994, NA10860
Known GenesPLAGL1
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)nsv510056
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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