A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578487



Internal ID16019210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7032886..7054932hg38UCSC Ensembl
Innerchr19:7032897..7054943hg19UCSC Ensembl
Innerchr19:6983897..7005943hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3822047
hg1922047
hg1822047
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv893218, nssv893220, nssv893219
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)nsv578487
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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