A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479596



Internal ID257115
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 StatusM
Merged Variants
Supporting Variantsnssv17001084
Samples
Known GenesSTAG3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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