A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1968



Internal ID15199845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8393330..8417088hg38UCSC Ensembl
Outerchr17:8296648..8320406hg19UCSC Ensembl
Outerchr17:8237373..8261131hg18UCSC Ensembl
Outerchr17:8237373..8261131hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385634
hg195634
hg185634
hg175634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7305, nssv1342, nssv4249
SamplesNA12156, NA12878, NA19240
Known GenesRNF222
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)nsv1968
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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