A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508927



Internal ID15824953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52589469..52630403hg38UCSC Ensembl
Outerchr3:52623485..52664419hg19UCSC Ensembl
Outerchr3:52598525..52639459hg18UCSC Ensembl
Outerchr3:52598525..52639459hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg384124
hg194124
hg184124
hg174124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621205
SamplesNA15510
Known GenesPBRM1
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)nsv508927
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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