A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508174



Internal ID15824201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:156169889..156227011hg38UCSC Ensembl
Outerchr2:157026401..157083523hg19UCSC Ensembl
Outerchr2:156734647..156791769hg18UCSC Ensembl
Outerchr2:156851909..156909031hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3857123
hg1957123
hg1857123
hg1757123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622821
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)nsv508174
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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