A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014493



Internal ID19103711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:146537807..146570627hg38UCSC Ensembl
Innerchr3:146255594..146288414hg19UCSC Ensembl
Innerchr3:147738284..147771104hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3832821
hg1932821
hg1832821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3606165
Samples
Known GenesPLSCR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014493
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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