A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509476



Internal ID15476974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110775614..110881742hg38UCSC Ensembl
Outerchr12:111213419..111319546hg19UCSC Ensembl
Outerchr12:109697802..109803929hg18UCSC Ensembl
Outerchr12:109676139..109782266hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384755
hg194755
hg184755
hg174755
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620977
SamplesNA15510
Known GenesCCDC63
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)nsv509476
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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