A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1768



Internal ID15541051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125582109..125598073hg38UCSC Ensembl
Outerchr8:126594353..126610317hg19UCSC Ensembl
Outerchr8:126663535..126679499hg18UCSC Ensembl
Outerchr8:126663535..126679499hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3815965
hg1915965
hg1815965
hg1715965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6377
Supporting Variants
SamplesNA18555
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)nssv1768
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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