A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3724904



Internal ID18676499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48512123..48608737hg38UCSC Ensembl
Innerchr19:49015380..49111994hg19UCSC Ensembl
Innerchr19:53707192..53803806hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3896615
hg1996615
hg1896615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057580
Supporting Variants
Samples
Known GenesFAM83E, LMTK3, SPACA4, SULT2B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3724904
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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