A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17509294



Internal ID22567244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73298370..73310235hg38UCSC Ensembl
chr7:72712370..72724230hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3811866
hg1911861
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852613
Supporting Variants
Samples
Known GenesNSUN5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17509294
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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