A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353214



Internal ID22578883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185149511..185149708hg38UCSC Ensembl
chr1:185118643..185118840hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877906
Supporting Variants
Samples
Known GenesTRMT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353214
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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