A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354509



Internal ID22580178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100290147..100290331hg38UCSC Ensembl
chr10:102049904..102050088hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5920930
Supporting Variants
Samples
Known GenesPKD2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354509
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