A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8515



Internal ID15535349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:77998252..78032464hg38UCSC Ensembl
Outerchr8:78910487..78944699hg19UCSC Ensembl
Outerchr8:79073042..79107254hg18UCSC Ensembl
Outerchr8:79073042..79107254hg17UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg385223
hg195223
hg185223
hg175223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6264
Supporting Variants
SamplesNA12156
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)nssv8515
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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