A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509494



Internal ID15476992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132421136..132526299hg38UCSC Ensembl
Outerchr12:132997722..133102885hg19UCSC Ensembl
Outerchr12:131507795..131612958hg18UCSC Ensembl
Outerchr12:131608072..131713235hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg388516
hg198516
hg188516
hg178516
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619624
SamplesNA10860
Known GenesFBRSL1
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)nsv509494
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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