A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419090



Internal ID22476960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128496155..128505312hg38UCSC Ensembl
chr6:128817300..128826457hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg389158
hg199158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898805
Supporting Variants
Samples
Known GenesPTPRK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419090
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