A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509544



Internal ID15825570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92543070..92585270hg38UCSC Ensembl
Outerchr14:93009415..93051615hg19UCSC Ensembl
Outerchr14:92079168..92121368hg18UCSC Ensembl
Outerchr14:92079168..92121368hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383063
hg193063
hg183063
hg173063
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619655
SamplesNA10860
Known GenesRIN3
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)nsv509544
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