A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6008723



Internal ID21918066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50730773..50731998hg38UCSC Ensembl
chr6:50698486..50699711hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17569649
Samples
Known GenesTFAP2D
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6008723
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer