A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464167



Internal ID242047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55846625..55854398hg38UCSC Ensembl
chr6:55711423..55719196hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg387774
hg197774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982856
Samples
Known GenesBMP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464167
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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