A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578485



Internal ID16019208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7018169..7055083hg38UCSC Ensembl
Innerchr19:7018180..7055094hg19UCSC Ensembl
Innerchr19:6969180..7006094hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3836915
hg1936915
hg1836915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6241n54
Supporting Variantsnssv893215, nssv893216
Samples
Known GenesMBD3L2, MBD3L4, MBD3L5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578485
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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