A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508156



Internal ID15824183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106224408..106303500hg38UCSC Ensembl
Outerchr2:106840864..106919956hg19UCSC Ensembl
Outerchr2:106207296..106286388hg18UCSC Ensembl
Outerchr2:106299382..106378474hg17UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3879093
hg1979093
hg1879093
hg1779093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620187
SamplesNA15510
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)nsv508156
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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