A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354880



Internal ID22580549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243268859..243268946hg38UCSC Ensembl
chr1:243432161..243432248hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885903
Supporting Variants
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354880
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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