A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509448



Internal ID15825474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:408807..432443hg38UCSC Ensembl
Outerchr12:517973..541609hg19UCSC Ensembl
Outerchr12:388234..411870hg18UCSC Ensembl
Outerchr12:388234..411870hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383565
hg193565
hg183565
hg173565
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618089
SamplesCHM
Known GenesCCDC77
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)nsv509448
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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