A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001079



Internal ID68305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75271000..75276700hg38UCSC Ensembl
chr7:74686652..74691518hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385701
hg194867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142841
Supporting Variants
Samples
Known GenesGTF2IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001079
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009091


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