A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049634



Internal ID18792165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92056253..92101525hg38UCSC Ensembl
Innerchr14:92522597..92567869hg19UCSC Ensembl
Innerchr14:91592350..91637622hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3845273
hg1945273
hg1845273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1956n100
Supporting Variantsnssv3532588, nssv3532587
Samples
Known GenesATXN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049634
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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