A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509148



Internal ID15825174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110947375..110967436hg38UCSC Ensembl
Outerchr6:111268578..111288639hg19UCSC Ensembl
Outerchr6:111375271..111395332hg18UCSC Ensembl
Outerchr6:111375271..111395332hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383319
hg193319
hg183319
hg173319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623484
SamplesNA18994
Known GenesGTF3C6
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)nsv509148
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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