A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1361



Internal ID5088208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77707417..77753024hg19UCSC Ensembl
Outerchr14:76777170..76822777hg18UCSC Ensembl
Outerchr14:76777170..76822777hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg196182
hg186182
hg176182
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv6603
SamplesNA12156
Known GenesMIR1260, NGB, POMT2, TMEM63C
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv1361
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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