A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17509314



Internal ID22567264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75414420..75420493hg38UCSC Ensembl
chr7:75043698..75049776hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386074
hg196079
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854452
Supporting Variants
Samples
Known GenesNSUN5P1, POM121C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17509314
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