A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1370



Internal ID15545933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:79637167..79655547hg38UCSC Ensembl
Outerchr14:80103510..80121890hg19UCSC Ensembl
Outerchr14:79173263..79191643hg18UCSC Ensembl
Outerchr14:79173263..79191643hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3818381
hg1918381
hg1818381
hg1718381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4127
SamplesNA12878
Known GenesNRXN3
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)nsv1370
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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