A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509495



Internal ID15825521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132945342..132982295hg38UCSC Ensembl
Outerchr12:133521928..133558881hg19UCSC Ensembl
Outerchr12:132032001..132068954hg18UCSC Ensembl
Outerchr12:132132278..132169231hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383005
hg193005
hg183005
hg173005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619625, nssv623641, nssv620984, nssv618100
SamplesCHM, NA15510, NA18994, NA10860
Known GenesZNF605
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)nsv509495
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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