A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046200



Internal ID18788731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45274249..45351310hg38UCSC Ensembl
Innerchr13:45848384..45925445hg19UCSC Ensembl
Innerchr13:44746384..44823445hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3877062
hg1977062
hg1877062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523426
Samples
Known GenesGTF2F2, SNORA31, TPT1, TPT1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046200
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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