A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018388



Internal ID18760921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5999082..6091538hg38UCSC Ensembl
Innerchr7:6038713..6131169hg19UCSC Ensembl
Innerchr7:6005239..6097695hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3892457
hg1992457
hg1892457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655072
Samples
Known GenesAIMP2, ANKRD61, EIF2AK1, PMS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018388
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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