A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1325



Internal ID15545888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68322462..68355979hg38UCSC Ensembl
Outerchr14:68789179..68822696hg19UCSC Ensembl
Outerchr14:67858932..67892449hg18UCSC Ensembl
Outerchr14:67858932..67892449hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg385921
hg195921
hg185921
hg175921
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9209
SamplesNA12156
Known GenesRAD51B
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)nsv1325
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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