A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000892



Internal ID18743423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68478882..68620249hg38UCSC Ensembl
Innerchr4:69344600..69485967hg19UCSC Ensembl
Innerchr4:69027195..69168562hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38141368
hg19141368
hg18141368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5253n100
Supporting Variantsnssv3627072
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)nsv1000892
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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