A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508975



Internal ID15825001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186936621..186986854hg38UCSC Ensembl
Outerchr3:186654410..186704642hg19UCSC Ensembl
Outerchr3:188137104..188187336hg18UCSC Ensembl
Outerchr3:188137112..188187344hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg383194
hg193194
hg183194
hg173194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623399
SamplesNA18994
Known GenesST6GAL1
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)nsv508975
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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