A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005138



Internal ID71050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128097548..128098577hg38UCSC Ensembl
chr7:127737600..127738629hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482572
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005138
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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