A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17536087



Internal ID21860442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95156366..95156460hg38UCSC Ensembl
chr1:95621922..95622016hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5985002
Supporting Variants
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17536087
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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