A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424855



Internal ID203828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95169584..95170780hg38UCSC Ensembl
chr1:95635140..95636336hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381197
hg191197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683921
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424855
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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