A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1428



Internal ID8512973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102068860..102102356hg38UCSC Ensembl
Outerchr14:102535197..102568693hg19UCSC Ensembl
Outerchr14:101604950..101638446hg18UCSC Ensembl
Outerchr14:101604950..101638446hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg385945
hg195945
hg185945
hg175945
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9243
SamplesNA12156
Known GenesHSP90AA1
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)nsv1428
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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