A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002317



Internal ID19091534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509211..68655679hg38UCSC Ensembl
Innerchr4:69374929..69521397hg19UCSC Ensembl
Innerchr4:69057524..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38146469
hg19146469
hg18146469
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5264n100
Supporting Variantsnssv3744752, nssv3631619, nssv3631612, nssv3744761, nssv3631623, nssv3631617, nssv3744757, nssv3631631, nssv3744751, nssv3631614, nssv3744758, nssv3631629, nssv3631621, nssv3631618, nssv3631624, nssv3631622, nssv3631608, nssv3744753, nssv3631610, nssv3631611, nssv3744756, nssv3744760, nssv3631613, nssv3631616, nssv3744750, nssv3631628, nssv3631615, nssv3631627, nssv3631630, nssv3631620, nssv3744749, nssv3744754, nssv3744755, nssv3631609, nssv3631625, nssv3744759, nssv3631626
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002317
Frequency
Sample Size11257
Observed Gain36
Observed Loss1
Observed Complex0
Frequencyn/a


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