A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1270



Internal ID15199147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49966729..49998159hg38UCSC Ensembl
Outerchr14:50433447..50464877hg19UCSC Ensembl
Outerchr14:49503197..49534627hg18UCSC Ensembl
Outerchr14:49503197..49534627hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387831
hg197831
hg187831
hg177831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5501
SamplesNA19129
Known GenesC14orf182
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)nsv1270
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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