A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462345



Internal ID21119898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49108234..49122735hg38UCSC Ensembl
chr12:49502017..49516518hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3814502
hg1914502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001103
Samples
Known GenesLMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462345
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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