A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620033



Internal ID15819390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8399039..8452095hg38UCSC Ensembl
Outerchr12:8551635..8604691hg19UCSC Ensembl
Outerchr12:8442902..8495958hg18UCSC Ensembl
Outerchr12:8442902..8495958hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3853057
hg1953057
hg1853057
hg1753057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508664
Supporting Variants
SamplesNA15510
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)nssv620033
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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