A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464475



Internal ID21122028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13589407..13590037hg38UCSC Ensembl
chr12:13742341..13742971hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999473
Samples
Known GenesGRIN2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464475
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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