A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456142



Internal ID21113695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16440571..16929225hg38UCSC Ensembl
chr12:16593505..17082159hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38488655
hg19488655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998086
Samples
Known GenesLMO3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456142
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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