A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1333



Internal ID15545896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69271966..69315300hg38UCSC Ensembl
Outerchr14:69738683..69782017hg19UCSC Ensembl
Outerchr14:68808436..68851770hg18UCSC Ensembl
Outerchr14:68808436..68851770hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg385784
hg195784
hg185784
hg175784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9213, nssv1205
SamplesNA12156, NA19240
Known GenesGALNT16
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)nsv1333
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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