A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045241



Internal ID18787772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:79419018..80267858hg38UCSC Ensembl
Innerchr14:79885361..80734201hg19UCSC Ensembl
Innerchr14:78955114..79803954hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38848841
hg19848841
hg18848841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531220
Samples
Known GenesDIO2, DIO2-AS1, NRXN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045241
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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