A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010612



Internal ID19099829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68418861..68620249hg38UCSC Ensembl
Innerchr4:69284579..69485967hg19UCSC Ensembl
Innerchr4:68967174..69168562hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38201389
hg19201389
hg18201389
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5250n100
Supporting Variantsnssv3626843, nssv3626842, nssv3740212, nssv3626841, nssv3626840, nssv3626844
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)nsv1010612
Frequency
Sample Size11257
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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