A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005148



Internal ID71058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128250248..128250337hg38UCSC Ensembl
chr7:127890301..127890390hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491761
Supporting Variants
Samples
Known GenesLEP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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