A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509852



Internal ID15477350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130693712..130699712hg38UCSC Ensembl
Outerchr3:130412556..130418556hg19UCSC Ensembl
Outerchr3:131895246..131901246hg18UCSC Ensembl
Outerchr3:131895254..131901254hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618585
SamplesCHM
Known GenesPIK3R4
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)nsv509852
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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