A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454747



Internal ID232842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7852000..7857000hg38UCSC Ensembl
chr6:7852233..7857233hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980000
Samples
Known GenesBMP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454747
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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