A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3625



Internal ID15538353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:9607407..9642244hg38UCSC Ensembl
Outerchr8:9464917..9499754hg19UCSC Ensembl
Outerchr8:9502327..9537164hg18UCSC Ensembl
Outerchr8:9502327..9537164hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384904
hg194904
hg184904
hg174904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6074
Supporting Variants
SamplesNA12878
Known GenesTNKS
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)nssv3625
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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