A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001682



Internal ID68723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117373257..117373257hg38UCSC Ensembl
chr7:117013311..117013311hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545841
Supporting Variants
Samples
Known GenesASZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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