A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001210



Internal ID19090427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198009438..198169134hg38UCSC Ensembl
Innerchr3:197736309..197896005hg19UCSC Ensembl
Innerchr3:199220706..199380402hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38159697
hg19159697
hg18159697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5046n100
Supporting Variantsnssv3617038, nssv3617037
Samples
Known GenesANKRD18DP, FAM157A, LMLN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001210
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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