A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623492



Internal ID15822065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166268075..166291064hg38UCSC Ensembl
Outerchr6:166681563..166704552hg19UCSC Ensembl
Outerchr6:166601553..166624542hg18UCSC Ensembl
Outerchr6:166651974..166674963hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811296
hg1911296
hg1811296
hg1711296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509168
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623492
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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