A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389124



Internal ID22446994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6582945..6584868hg38UCSC Ensembl
chr1:6643005..6644928hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381924
hg191924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871232
Supporting Variants
Samples
Known GenesZBTB48
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389124
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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