A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4731800



Internal ID20507721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39975253..39975351hg38UCSC Ensembl
chr17:38131506..38131604hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259710
Samples
Known GenesGSDMA
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4731800
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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