A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940136



Internal ID22715541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50160239..50165365hg38UCSC Ensembl
chr12:50554022..50559148hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385127
hg195127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368420
Samples
Known GenesCERS5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940136
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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