A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054462



Internal ID20621502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185123101..185124200hg38UCSC Ensembl
chr1:185092233..185093332hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321179
Supporting Variants
Samples
Known GenesTRMT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054462
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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