A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508831



Internal ID15476329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24787088..24857561hg38UCSC Ensembl
Outerchr2:25009957..25080430hg19UCSC Ensembl
Outerchr2:24863461..24933934hg18UCSC Ensembl
Outerchr2:24921608..24992081hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383827
hg193827
hg183827
hg173827
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623862
SamplesNA18994
Known GenesADCY3, CENPO, PTRHD1
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)nsv508831
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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