A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473170



Internal ID250862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6786971..7077242hg38UCSC Ensembl
chr7:6826602..7116873hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38290272
hg19290272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992282
Samples
Known GenesCCZ1B, LOC100131257, RSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473170
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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