A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578486



Internal ID16019209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7018169..7058465hg38UCSC Ensembl
Innerchr19:7018180..7058476hg19UCSC Ensembl
Innerchr19:6969180..7009476hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3840297
hg1940297
hg1840297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6241n54
Supporting Variantsnssv893217
Samples
Known GenesMBD3L2, MBD3L3, MBD3L4, MBD3L5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578486
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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