A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471228



Internal ID21128781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102447516..102450300hg38UCSC Ensembl
chr12:102841294..102844078hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382785
hg192785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996778
Samples
Known GenesIGF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471228
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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