A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005632



Internal ID71369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148548535..148548586hg38UCSC Ensembl
chr7:148245627..148245678hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395549
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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