A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419231



Internal ID198370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95156368..95156460hg38UCSC Ensembl
chr1:95621924..95622016hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907000
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419231
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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