A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462862



Internal ID240784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6736242..7472242hg38UCSC Ensembl
chr7:6775873..7511873hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38736001
hg19736001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992274
Samples
Known GenesC1GALT1, CCZ1B, COL28A1, LOC100131257, LOC101927354, PMS2CL, RSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462862
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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