A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000985



Internal ID68222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74503167..74503776hg38UCSC Ensembl
chr7:73917497..73918106hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488480
Supporting Variants
Samples
Known GenesGTF2IRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000985
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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