A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578494



Internal ID16019217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7033954..7061142hg38UCSC Ensembl
Innerchr19:7033965..7061153hg19UCSC Ensembl
Innerchr19:6984965..7012153hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3827189
hg1927189
hg1827189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6243n54
Supporting Variantsnssv893228
Samples
Known GenesMBD3L2, MBD3L3, MBD3L4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578494
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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