A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6368



Internal ID15204584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120591734..120626194hg38UCSC Ensembl
Outerchr8:121603974..121638434hg19UCSC Ensembl
Outerchr8:121673155..121707615hg18UCSC Ensembl
Outerchr8:121673155..121707615hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385564
hg195564
hg185564
hg175564
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2798
SamplesNA18555
Known GenesSNTB1
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)nsv6368
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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