A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006040



Internal ID19095258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68615992hg38UCSC Ensembl
Innerchr4:69294787..69481710hg19UCSC Ensembl
Innerchr4:68977382..69164305hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38186924
hg19186924
hg18186924
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3626934, nssv3626933, nssv3626935, nssv3626938, nssv3626939, nssv3626937, nssv3626932, nssv3626936, nssv3740230
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)nsv1006040
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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