A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475762



Internal ID253396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43438669..43655428hg38UCSC Ensembl
chr7:43478268..43695027hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38216760
hg19216760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997282
Samples
Known GenesCOA1, HECW1, LOC100506895, STK17A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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