A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508183



Internal ID15824210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176399783..176416554hg38UCSC Ensembl
Outerchr2:177264511..177281282hg19UCSC Ensembl
Outerchr2:176972757..176989528hg18UCSC Ensembl
Outerchr2:177090018..177106789hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3816772
hg1916772
hg1816772
hg1716772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617466, nssv618699, nssv620198
SamplesCHM, NA15510, NA10860
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)nsv508183
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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