A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6021816



Internal ID21931159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47775009..47776863hg38UCSC Ensembl
chr12:48168792..48170646hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381855
hg191855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17601574
Samples
Known GenesSLC48A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6021816
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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