A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1307



Internal ID8512852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64275319..64320597hg38UCSC Ensembl
Outerchr14:64742037..64787315hg19UCSC Ensembl
Outerchr14:63811790..63857068hg18UCSC Ensembl
Outerchr14:63811790..63857068hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3845279
hg1945279
hg1845279
hg1745279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9205
SamplesNA12156
Known GenesESR2, MIR548AZ
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)nsv1307
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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