A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593172



Internal ID16380581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198017327..198087104hg38UCSC Ensembl
Innerchr3:197744198..197813975hg19UCSC Ensembl
Innerchr3:199228595..199298372hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3869778
hg1969778
hg1869778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8866n54
Supporting Variantsnssv987328
Samples
Known GenesANKRD18DP, LMLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593172
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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