A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1224



Internal ID15545787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28310154..28355327hg38UCSC Ensembl
Outerchr14:28779360..28824533hg19UCSC Ensembl
Outerchr14:27849111..27894284hg18UCSC Ensembl
Outerchr14:27849111..27894284hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3845174
hg1945174
hg1845174
hg1745174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9177
SamplesNA12156
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)nsv1224
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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