A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000996



Internal ID68232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74665229..74675050hg38UCSC Ensembl
chr7:74079561..74089374hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389822
hg199814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483949
Supporting Variants
Samples
Known GenesGTF2I
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000996
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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