A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001544



Internal ID68634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124141247..124141247hg38UCSC Ensembl
chr7:123781301..123781301hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535663
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.5375


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