A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508139



Internal ID15824166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:35957690..35993570hg38UCSC Ensembl
Outerchr2:36182790..36220720hg19UCSC Ensembl
Outerchr2:36036294..36074224hg18UCSC Ensembl
Outerchr2:36094441..36132371hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3835881
hg1937931
hg1837931
hg1737931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622808
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)nsv508139
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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