A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948249



Internal ID22723737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35322277..35322366hg38UCSC Ensembl
chr20:33910080..33910169hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396158
Samples
Known GenesUQCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948249
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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