A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001059



Internal ID68287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75112779..75124779hg38UCSC Ensembl
chr7:74528573..74540580hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3812001
hg1912008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142394
Supporting Variants
Samples
Known GenesGTF2IRD2, GTF2IRD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001059
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000446


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