A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685



Internal ID15538413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125580231..125589939hg38UCSC Ensembl
Outerchr8:126592475..126602183hg19UCSC Ensembl
Outerchr8:126661657..126671365hg18UCSC Ensembl
Outerchr8:126661657..126671365hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg389709
hg199709
hg189709
hg179709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6377
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)nssv3685
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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