A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467033



Internal ID244855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50730775..50731998hg38UCSC Ensembl
chr6:50698488..50699711hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984951
Samples
Known GenesTFAP2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467033
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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