A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv368



Internal ID8515295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67479842..67509866hg38UCSC Ensembl
Outerchr11:67247313..67277337hg19UCSC Ensembl
Outerchr11:67003889..67033913hg18UCSC Ensembl
Outerchr11:67003889..67033913hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg389252
hg199252
hg189252
hg179252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5364
SamplesNA19129
Known GenesAIP, CDK2AP2, MIR6752, PITPNM1
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)nsv368
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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