A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062812



Internal ID18805343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44538275..44711525hg38UCSC Ensembl
Innerchr19:45042262..45214796hg19UCSC Ensembl
Innerchr19:49734102..49906636hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38173251
hg19172535
hg18172535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724892
Samples
Known GenesCEACAM16, CEACAM19, CEACAM22P, IGSF23, MIR4531, PVR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062812
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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