A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936067



Internal ID22711416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79641572..80107313hg38UCSC Ensembl
chr18:77401572..77865197hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38465742
hg19463626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394725
Samples
Known GenesCTDP1, HSBP1L1, KCNG2, PQLC1, RBFA, RBFADN, TXNL4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936067
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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