A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280149



Internal ID20489367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38715783..38716015hg38UCSC Ensembl
chr6:38683559..38683791hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4740794
Supporting Variants
Samples
Known GenesDNAH8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280149
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