A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv516



Internal ID15198031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177519430..177552310hg38UCSC Ensembl
Outerchr5:176946431..176979311hg19UCSC Ensembl
Outerchr5:176879037..176911917hg18UCSC Ensembl
Outerchr5:176879037..176911917hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388116
hg198116
hg188116
hg178116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5148
Supporting Variants
SamplesNA19240
Known GenesFAM193B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv516
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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