A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2243



Internal ID15546806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:105928062..105945431hg38UCSC Ensembl
Outerchr1:106470684..106488053hg19UCSC Ensembl
Outerchr1:106272207..106289576hg18UCSC Ensembl
Outerchr1:106182726..106200095hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg389106
hg199106
hg189106
hg179106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4458
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)nsv2243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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