A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462842



Internal ID21120395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46776527..46777067hg38UCSC Ensembl
chr12:47170310..47170850hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001729
Samples
Known GenesSLC38A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462842
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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