A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013696



Internal ID19102915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68581715..68674295hg38UCSC Ensembl
Innerchr4:69447433..69540013hg19UCSC Ensembl
Innerchr4:69130028..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3892581
hg1992581
hg1892581
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5289n100
Supporting Variantsnssv3629008, nssv3629013, nssv3743970, nssv3629016, nssv3743971, nssv3629015, nssv3629014, nssv3629009, nssv3630127, nssv3629012, nssv3630128, nssv3629007, nssv3629010, nssv3630126, nssv3629011, nssv3629018, nssv3629017, nssv3743969
Samples
Known GenesUGT2B15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013696
Frequency
Sample Size11257
Observed Gain15
Observed Loss3
Observed Complex0
Frequencyn/a


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