A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1206



Internal ID15545769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20921418..20969580hg38UCSC Ensembl
Outerchr14:21389577..21437739hg19UCSC Ensembl
Outerchr14:20459417..20507579hg18UCSC Ensembl
Outerchr14:20459417..20507579hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg385994
hg195994
hg185994
hg175994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9173, nssv4097
SamplesNA12156, NA12878
Known GenesRNASE2
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)nsv1206
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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