A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001061



Internal ID68289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75113779..75124779hg38UCSC Ensembl
chr7:74529587..74540580hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3811001
hg1910994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141648
Supporting Variants
Samples
Known GenesGTF2IRD2, GTF2IRD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.129283


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