A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522



Internal ID5089811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:38492652..38527198hg19UCSC Ensembl
Outerchr1:38265239..38299785hg18UCSC Ensembl
Outerchr1:38161745..38196291hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg195483
hg185483
hg175483
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv2925
SamplesNA18555
Known GenesPOU3F1
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)nsv522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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