A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3724892



Internal ID18676487
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 StatusS
Merged Variantsnsv1062812
Supporting Variants
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)nssv3724892
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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