A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3573812



Internal ID18872093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47793971..47898954hg38UCSC Ensembl
Innerchr19:48297228..48402211hg19UCSC Ensembl
Innerchr19:52989040..53094023hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38104984
hg19104984
hg18104984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066782
Supporting Variants
Samples
Known GenesCRX, SULT2A1, TPRX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3573812
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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