A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509468



Internal ID15476966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152187656..152299397hg38UCSC Ensembl
Outerchr1:152160132..152271873hg19UCSC Ensembl
Outerchr1:150426756..150538497hg18UCSC Ensembl
Outerchr1:148973205..149084946hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386607
hg196607
hg186607
hg176607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623794, nssv619814, nssv621103
SamplesNA15510, NA18994, NA10860
Known GenesHRNR
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)nsv509468
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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