A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481301



Internal ID258788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138942685..138943624hg38UCSC Ensembl
chr7:138627431..138628370hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004391
Samples
Known GenesKIAA1549
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481301
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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