A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945612



Internal ID22721092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14245266..14246735hg38UCSC Ensembl
chr16:14339123..14340592hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371894
Samples
Known GenesMKL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945612
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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