A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938942



Internal ID22714329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29657202..29657503hg38UCSC Ensembl
chr17:27984220..27984521hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372029
Samples
Known GenesSSH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938942
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