A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005396



Internal ID19094613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:120741894..120861472hg38UCSC Ensembl
Innerchr3:120460741..120580319hg19UCSC Ensembl
Innerchr3:121943431..122063009hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38119579
hg19119579
hg18119579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4847n100
Supporting Variantsnssv3604522
Samples
Known GenesGTF2E1, RABL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005396
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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