A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1231



Internal ID15545794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30955396..30975515hg38UCSC Ensembl
Outerchr14:31424602..31444721hg19UCSC Ensembl
Outerchr14:30494353..30514472hg18UCSC Ensembl
Outerchr14:30494353..30514472hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3820120
hg1920120
hg1820120
hg1720120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9182
SamplesNA12156
Known GenesSTRN3
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)nsv1231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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