A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6450



Internal ID15204675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144850126..144882473hg38UCSC Ensembl
Outerchr8:146075511..146107858hg19UCSC Ensembl
Outerchr8:146046315..146078662hg18UCSC Ensembl
Outerchr8:146046315..146078662hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386935
hg196935
hg186935
hg176935
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5145
SamplesNA19129
Known GenesCOMMD5, ZNF250
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)nsv6450
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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