A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3687



Internal ID15538415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128244632..128279899hg38UCSC Ensembl
Outerchr8:129256878..129292145hg19UCSC Ensembl
Outerchr8:129326060..129361327hg18UCSC Ensembl
Outerchr8:129326060..129361327hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg384476
hg194476
hg184476
hg174476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6389
Supporting Variants
SamplesNA12878
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)nssv3687
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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