A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578649



Internal ID16019372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14089297..14091339hg38UCSC Ensembl
Innerchr19:14200109..14202151hg19UCSC Ensembl
Innerchr19:14061109..14063151hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382043
hg192043
hg182043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6276n54
Supporting Variantsnssv894820
Samples
Known GenesSAMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578649
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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