A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4097



Internal ID15538824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20938073..20969580hg38UCSC Ensembl
Outerchr14:21406232..21437739hg19UCSC Ensembl
Outerchr14:20476072..20507579hg18UCSC Ensembl
Outerchr14:20476072..20507579hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388242
hg198242
hg188242
hg178242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1206
Supporting Variants
SamplesNA12878
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)nssv4097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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