A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888140



Internal ID22663141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147514415..147514471hg38UCSC Ensembl
chr6:147835551..147835607hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428254
Samples
Known GenesSAMD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888140
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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