A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015130



Internal ID18757665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68564420..68623605hg38UCSC Ensembl
Innerchr4:69430138..69489323hg19UCSC Ensembl
Innerchr4:69112733..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3859186
hg1959186
hg1859186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5286n100
Supporting Variantsnssv3743946
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015130
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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