A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1295



Internal ID5085770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:61115838..61160694hg19UCSC Ensembl
Outerchr14:60185591..60230447hg18UCSC Ensembl
Outerchr14:60185591..60230447hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg195432
hg185432
hg175432
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv9202
SamplesNA12156
Known GenesSIX1
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)nsv1295
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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