A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002812



Internal ID19092029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68439209..68623605hg38UCSC Ensembl
Innerchr4:69304927..69489323hg19UCSC Ensembl
Innerchr4:68987522..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38184397
hg19184397
hg18184397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3627045, nssv3627042, nssv3740241, nssv3740240, nssv3627044, nssv3627043, nssv3627046, nssv3740242
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)nsv1002812
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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