A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5265



Internal ID15550057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246800490..246836354hg38UCSC Ensembl
Outerchr1:246963792..246999656hg19UCSC Ensembl
Outerchr1:245030415..245066279hg18UCSC Ensembl
Outerchr1:243289833..243325697hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388712
hg198712
hg188712
hg178712
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816, nssv6231, nssv628, nssv5084, nssv3847
SamplesNA12156, NA12878, NA18555, NA19240, NA19129
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)nsv5265
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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