A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469388



Internal ID21126941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1440419..1626811hg38UCSC Ensembl
chr12:1549585..1735977hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38186393
hg19186393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177387
Samples
Known GenesERC1, FBXL14, LINC00942, WNT5B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469388
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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