A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140588



Internal ID339781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94835381..94841410hg38UCSC Ensembl
chr4:95756532..95762561hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg386030
hg196030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951893
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140588
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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