A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984389



Internal ID21893732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54504649..54752462hg38UCSC Ensembl
chr1:54970322..55218135hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38247814
hg19247814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537321
Samples
Known GenesACOT11, FAM151A, MROH7, MROH7-TTC4, TTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984389
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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