A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012865



Internal ID18755397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9427573..9792557hg38UCSC Ensembl
Innerchr4:9429299..9794181hg19UCSC Ensembl
Innerchr4:9038397..9403279hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38364985
hg19364883
hg18364883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5108n100
Supporting Variantsnssv3738194
Samples
Known GenesDEFB131, DRD5, LOC650293, MIR548I2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012865
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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