A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143906



Internal ID343108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101881835..101883354hg38UCSC Ensembl
chr12:102275613..102277132hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381520
hg191520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690389
Samples
Known GenesDRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143906
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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