A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892748



Internal ID22667802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52301388..52306660hg38UCSC Ensembl
chr6:52166186..52171458hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg385273
hg195273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445493
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892748
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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