A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579897



Internal ID16020620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47793971..47890785hg38UCSC Ensembl
Innerchr19:48297228..48394042hg19UCSC Ensembl
Innerchr19:52989040..53085854hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3896815
hg1996815
hg1896815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150650
SamplesNINDS_203
Known GenesCRX, SULT2A1, TPRX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579897
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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