A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11199



Internal ID15192694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143202119..143230416hg38UCSC Ensembl
Outerchr8:144283580..144312586hg19UCSC Ensembl
Outerchr8:144354955..144383961hg18UCSC Ensembl
Outerchr8:144354955..144383961hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389278
hg199278
hg189278
hg179278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6438
Supporting Variants
SamplesNA15510
Known GenesGPIHBP1
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)nssv11199
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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