A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508213



Internal ID15824240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:25164659..25284705hg38UCSC Ensembl
Outerchr3:25206150..25326196hg19UCSC Ensembl
Outerchr3:25181154..25301200hg18UCSC Ensembl
Outerchr3:25181154..25301200hg17UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38120047
hg19120047
hg18120047
hg17120047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618710
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)nsv508213
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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