A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476182



Internal ID253800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65587481..65879647hg38UCSC Ensembl
chr7:65052394..65344634hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38292167
hg19292241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999771
Samples
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, VKORC1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476182
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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