A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463078



Internal ID21120631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21509676..21511389hg38UCSC Ensembl
chr12:21662610..21664323hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381714
hg191714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998203
Samples
Known GenesGOLT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463078
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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