A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933938



Internal ID22709256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35616600..35616687hg38UCSC Ensembl
chr17:33943619..33943706hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377008
Samples
Known GenesAP2B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933938
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