A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485852



Internal ID263233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33730152..34352692hg38UCSC Ensembl
chr7:33769764..34392304hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38622541
hg19622541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994074
Samples
Known GenesBMPER, NPSR1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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