A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003542



Internal ID69984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:127538248..127538299hg38UCSC Ensembl
chr7:127178302..127178353hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558637
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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