A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056407



Internal ID18798938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9144347..9553766hg38UCSC Ensembl
Innerchr18:9144345..9553764hg19UCSC Ensembl
Innerchr18:9134345..9543764hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38409420
hg19409420
hg18409420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564097
Samples
Known GenesANKRD12, PPP4R1, RALBP1, TWSG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056407
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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