A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001103



Internal ID20568143
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 StatusS
Merged Variantsnsv6462345
Supporting Variants
Samples
Known GenesLMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001103
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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