A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17838269



Internal ID22021912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50343278..50343278hg38UCSC Ensembl
chr7:50410976..50410976hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239426
Supporting Variants
Samples
Known GenesIKZF1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17838269
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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