A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556349



Internal ID329488
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 StatusM
Merged Variants
Supporting Variantsnssv16992556
Samples
Known GenesEIF2AK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556349
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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