A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509488



Internal ID15825514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130378005..130396503hg38UCSC Ensembl
Outerchr12:130862550..130881048hg19UCSC Ensembl
Outerchr12:129428503..129447001hg18UCSC Ensembl
Outerchr12:129387430..129405928hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384530
hg194530
hg184530
hg174530
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623637, nssv619620, nssv618097
SamplesCHM, NA18994, NA10860
Known GenesRIMBP2
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)nsv509488
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer