A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882258



Internal ID22657235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95143032..95143102hg38UCSC Ensembl
chr1:95608588..95608658hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393732
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882258
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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