A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441393



Internal ID22499263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70587429..70598315hg38UCSC Ensembl
chr6:71297132..71308018hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3810887
hg1910887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899687
Supporting Variants
Samples
Known GenesC6orf57
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441393
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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