A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508967



Internal ID15824993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:177265722..177311100hg38UCSC Ensembl
Outerchr3:176983510..177028888hg19UCSC Ensembl
Outerchr3:178466204..178511582hg18UCSC Ensembl
Outerchr3:178466212..178511590hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg383149
hg193149
hg183149
hg173149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623396
SamplesNA18994
Known GenesLINC00501
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)nsv508967
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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