A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11197



Internal ID15539382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129743567..129773153hg38UCSC Ensembl
Outerchr8:130755813..130785399hg19UCSC Ensembl
Outerchr8:130824995..130854581hg18UCSC Ensembl
Outerchr8:130824995..130854581hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg389530
hg199530
hg189530
hg179530
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6395
Supporting Variants
SamplesNA15510
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)nssv11197
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