A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001076



Internal ID68302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75216779..75232779hg38UCSC Ensembl
chr7:74632495..74648481hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3816001
hg1915987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142183
Supporting Variants
Samples
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001076
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00056


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