A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594683



Internal ID16382092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:74147724..74240768hg38UCSC Ensembl
Innerchr4:75013441..75106485hg19UCSC Ensembl
Innerchr4:75232305..75325349hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3893045
hg1993045
hg1893045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9134n54
Supporting Variantsnssv1002361
Samples
Known GenesMTHFD2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594683
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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