A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063125



Internal ID18805656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12046893..12918252hg38UCSC Ensembl
Innerchr18:12046892..12918251hg19UCSC Ensembl
Innerchr18:12036892..12908251hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38871360
hg19871360
hg18871360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564105
Samples
Known GenesAFG3L2, ANKRD62, C18orf61, CEP76, CIDEA, PSMG2, PTPN2, SLMO1, SPIRE1, TUBB6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063125
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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