A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028968



Internal ID18771500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34945017..35060217hg38UCSC Ensembl
Innerchr5:34945122..35060319hg19UCSC Ensembl
Innerchr5:34980879..35096076hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38115201
hg19115198
hg18115198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3637068
Samples
Known GenesAGXT2, DNAJC21, PRLR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028968
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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