A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047443



Internal ID18789974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50452584..51354826hg38UCSC Ensembl
Innerchr15:50744781..51647023hg19UCSC Ensembl
Innerchr15:48532073..49434315hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38902243
hg19902243
hg18902243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3552388
Samples
Known GenesAP4E1, CYP19A1, DCAF13P3, GLDN, MIR4713, SPPL2A, TNFAIP8L3, TRPM7, USP50, USP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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