A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509105



Internal ID15476603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177884347..178008855hg38UCSC Ensembl
Outerchr5:177311348..177435856hg19UCSC Ensembl
Outerchr5:177243954..177368462hg18UCSC Ensembl
Outerchr5:177243954..177368462hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3815054
hg1915054
hg1815054
hg1715054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619433, nssv623463
SamplesNA18994, NA10860
Known GenesFAM153C, PROP1
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)nsv509105
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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