A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6253



Internal ID15537610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128422313..128463906hg38UCSC Ensembl
Outerchr8:129434559..129476152hg19UCSC Ensembl
Outerchr8:129503741..129545334hg18UCSC Ensembl
Outerchr8:129503741..129545334hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3841594
hg1941594
hg1841594
hg1741594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6391
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)nssv6253
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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