A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007305



Internal ID18749836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129963200..130080812hg38UCSC Ensembl
Innerchr3:129682043..129799655hg19UCSC Ensembl
Innerchr3:131164733..131282345hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38117613
hg19117613
hg18117613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4860n100
Supporting Variantsnssv3603540
Samples
Known GenesTRH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007305
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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