A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483112



Internal ID15235586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80551019..80731514hg38UCSC Ensembl
Innerchr5:79846838..80027333hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38180496
hg19180496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996335, nssv2996533
Samples
Known GenesANKRD34B, DHFR, MSH3, MTRNR2L2
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483112
Frequency
Sample Size39
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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