A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5633n100



Internal ID20157249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36946352..36994709hg38UCSC Ensembl
chr5:36946454..36994811hg19UCSC Ensembl
chr5:36982211..37030568hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3848358
hg1948358
hg1848358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1034694, nsv1033778, nsv1015172
Samples
Known GenesNIPBL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5633n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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