A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992556



Internal ID62509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6048360..6048411hg38UCSC Ensembl
chr7:6087991..6088042hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556349
Supporting Variants
Samples
Known GenesEIF2AK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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