A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999007



Internal ID19158543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68554387hg38UCSC Ensembl
Innerchr4:69294787..69420105hg19UCSC Ensembl
Innerchr4:68977382..69102700hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38125319
hg19125319
hg18125319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5248n100
Supporting Variantsnssv3626907, nssv3740227, nssv3626909, nssv3626908, nssv3740226
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999007
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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