A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618787



Internal ID15471905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32871519..32924395hg38UCSC Ensembl
Outerchr6:32839296..32892172hg19UCSC Ensembl
Outerchr6:32947274..33000150hg18UCSC Ensembl
Outerchr6:32947274..33000150hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3852877
hg1952877
hg1852877
hg1752877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508400
Supporting Variants
SamplesNA10860
Known GenesLOC100294145
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)nssv618787
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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