A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003200



Internal ID19092418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68655679hg38UCSC Ensembl
Innerchr4:69294787..69521397hg19UCSC Ensembl
Innerchr4:68977382..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38226611
hg19226611
hg18226611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5251n100
Supporting Variantsnssv3740238, nssv3627002, nssv3627000, nssv3627001, nssv3626999, nssv3626997, nssv3626998
Samples
Known GenesTMPRSS11E, UGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003200
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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