A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472258



Internal ID249975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7913726..7923205hg38UCSC Ensembl
chr6:7913959..7923438hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg389480
hg199480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980004
Samples
Known GenesBLOC1S5-TXNDC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472258
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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