A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432213



Internal ID22490083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12948831..13038990hg38UCSC Ensembl
chr8:12806340..12896499hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3890160
hg1990160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917344
Supporting Variants
Samples
Known GenesKIAA1456
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432213
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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