A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940808



Internal ID22716222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56180147..56180441hg38UCSC Ensembl
chr12:56573931..56574225hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368794
Samples
Known GenesSMARCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940808
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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