A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001084



Internal ID68309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75366779..75373859hg38UCSC Ensembl
chr7:74996047..75003134hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387081
hg197088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479596
Supporting Variants
Samples
Known GenesSTAG3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002442


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