A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521



Internal ID15549996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3983804..3987973hg38UCSC Ensembl
Outerchr1:4043864..4048033hg19UCSC Ensembl
Outerchr1:3943724..3947893hg18UCSC Ensembl
Outerchr1:3954237..3958406hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg389181
hg199181
hg189181
hg179181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1327
SamplesNA19240
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)nsv521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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