A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000999



Internal ID68234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74740600..74844779hg38UCSC Ensembl
chr7:74154935..74261107hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38104180
hg19106173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141719
Supporting Variants
Samples
Known GenesGTF2I, GTF2IRD2, NCF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000157


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