A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040116



Internal ID21949459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95946567..95949176hg38UCSC Ensembl
chr12:96340345..96342954hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609930
Samples
Known GenesAMDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040116
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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