A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6415090



Internal ID21072643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51961033..51971781hg38UCSC Ensembl
chr6:51825831..51836579hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3810749
hg1910749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18143987
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6415090
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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