A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470567



Internal ID248323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94793297..94836029hg38UCSC Ensembl
chr4:95714448..95757180hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3842733
hg1942733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951889
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470567
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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