A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057580



Internal ID18800111
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 StatusM
Merged Variants
Supporting Variantsnssv3724904, nssv3574964
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)nsv1057580
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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