A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6455938



Internal ID21113491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31994376..32128065hg38UCSC Ensembl
chr12:32147310..32280999hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38133690
hg19133690
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196270
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6455938
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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