A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859971



Internal ID22043614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27968830..27968830hg38UCSC Ensembl
chr7:28008449..28008449hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6261227
Supporting Variants
Samples
Known GenesJAZF1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859971
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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