A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1770



Internal ID15541053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129734705..129753469hg38UCSC Ensembl
Outerchr8:130746951..130765715hg19UCSC Ensembl
Outerchr8:130816133..130834897hg18UCSC Ensembl
Outerchr8:130816133..130834897hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg389864
hg199864
hg189864
hg179864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6395
Supporting Variants
SamplesNA18555
Known GenesGSDMC
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)nssv1770
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