A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5070



Internal ID15542810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31588789..31620270hg38UCSC Ensembl
Outerchr8:31446305..31477786hg19UCSC Ensembl
Outerchr8:31565847..31597328hg18UCSC Ensembl
Outerchr8:31565847..31597328hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg387800
hg197800
hg187800
hg177800
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5070
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