A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509090



Internal ID15476588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140311306..140421024hg38UCSC Ensembl
Outerchr5:139690891..139800609hg19UCSC Ensembl
Outerchr5:139671075..139780793hg18UCSC Ensembl
Outerchr5:139671075..139780793hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385483
hg195483
hg185483
hg175483
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623455
SamplesNA18994
Known GenesANKHD1, ANKHD1-EIF4EBP3, HBEGF, SLC4A9
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)nsv509090
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