A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900912



Internal ID22676059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51938265..51944079hg38UCSC Ensembl
chr6:51803063..51808877hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg385815
hg195815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440913
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900912
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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