A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000595



Internal ID67974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103513397..103513448hg38UCSC Ensembl
chr7:103153844..103153895hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404978
Supporting Variants
Samples
Known GenesRELN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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