A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857727



Internal ID22041370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95118546..95118546hg38UCSC Ensembl
chr1:95584102..95584102hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244393
Supporting Variants
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857727
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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