A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121



Internal ID15545684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62908547..62943066hg38UCSC Ensembl
Outerchr1:63374218..63408737hg19UCSC Ensembl
Outerchr1:63146806..63181325hg18UCSC Ensembl
Outerchr1:63086239..63120758hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385213
hg195213
hg185213
hg175213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4256
SamplesNA12878
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)nsv1121
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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