A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904503



Internal ID22679680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150229732..150232401hg38UCSC Ensembl
chr6:150550868..150553537hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382670
hg192670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427858
Samples
Known GenesPPP1R14C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904503
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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