A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032143



Internal ID18774677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43931542..43948877hg38UCSC Ensembl
Innerchr7:43971141..43988476hg19UCSC Ensembl
Innerchr7:43937666..43955001hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3817336
hg1917336
hg1817336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661228
Samples
Known GenesPOLR2J4, UBE2D4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032143
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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