A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918548



Internal ID22693769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20667651..20669742hg38UCSC Ensembl
chr7:20707274..20709365hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg382092
hg192092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433043
Samples
Known GenesABCB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918548
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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