A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001437



Internal ID19090654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68620249hg38UCSC Ensembl
Innerchr4:69294787..69485967hg19UCSC Ensembl
Innerchr4:68977382..69168562hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38191181
hg19191181
hg18191181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3626949, nssv3626945, nssv3626947, nssv3626948, nssv3626950, nssv3626957, nssv3740232, nssv3626954, nssv3740233, nssv3626953, nssv3626952, nssv3626943, nssv3626955, nssv3626951, nssv3626956, nssv3626946, nssv3626944, nssv3626942
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)nsv1001437
Frequency
Sample Size11257
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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