A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594684



Internal ID16382093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:74150033..74240768hg38UCSC Ensembl
Innerchr4:75015750..75106485hg19UCSC Ensembl
Innerchr4:75234614..75325349hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3890736
hg1990736
hg1890736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9134n54
Supporting Variantsnssv1002362
Samples
Known GenesMTHFD2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594684
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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