A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16270778



Internal ID20479996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241192070..241207613hg38UCSC Ensembl
chr1:241355370..241370913hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3815544
hg1915544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4743713
Supporting Variants
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16270778
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