A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016724



Internal ID18759259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43927631..43957476hg38UCSC Ensembl
Innerchr7:43967230..43997075hg19UCSC Ensembl
Innerchr7:43933755..43963600hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3829846
hg1929846
hg1829846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661227
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)nsv1016724
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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