A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4632



Internal ID15202675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220041527..220076852hg38UCSC Ensembl
Outerchr1:220214869..220250194hg19UCSC Ensembl
Outerchr1:218281492..218316817hg18UCSC Ensembl
Outerchr1:216603264..216638589hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385656
hg195656
hg185656
hg175656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545
SamplesNA19240
Known GenesBPNT1, EPRS, RNU5F-1
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)nsv4632
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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