A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001000



Internal ID68235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74746389..74763200hg38UCSC Ensembl
chr7:74160728..74177545hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3816812
hg1916818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142901
Supporting Variants
Samples
Known GenesGTF2I
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001000
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004205


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