A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007680



Internal ID19096899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68554293..68602821hg38UCSC Ensembl
Innerchr4:69420011..69468539hg19UCSC Ensembl
Innerchr4:69102606..69151134hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3848529
hg1948529
hg1848529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5281n100
Supporting Variantsnssv3630894
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)nsv1007680
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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