A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1225



Internal ID15545788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28398534..28426076hg38UCSC Ensembl
Outerchr14:28867740..28895282hg19UCSC Ensembl
Outerchr14:27937491..27965033hg18UCSC Ensembl
Outerchr14:27937491..27965033hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3827543
hg1927543
hg1827543
hg1727543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2068
SamplesNA18555
Known Genes
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)nsv1225
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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