A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053211



Internal ID20620251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174641601..174650900hg38UCSC Ensembl
chr1:174610739..174620038hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg389300
hg199300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318733
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053211
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00046


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