A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471363



Internal ID21128916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12625724..12630264hg38UCSC Ensembl
chr12:12778658..12783198hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384541
hg194541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999137
Samples
Known GenesCREBL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471363
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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