A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422958



Internal ID22480828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147558323..147569389hg38UCSC Ensembl
chr6:147879459..147890525hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3811067
hg1911067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890029
Supporting Variants
Samples
Known GenesSAMD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422958
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