A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508144



Internal ID15824171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:59988456..60026785hg38UCSC Ensembl
Outerchr2:60215591..60253920hg19UCSC Ensembl
Outerchr2:60069095..60107424hg18UCSC Ensembl
Outerchr2:60127242..60165571hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3838330
hg1938330
hg1838330
hg1738330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619031
SamplesNA10860
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)nsv508144
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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