A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17435666



Internal ID22493536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131271356..131271659hg38UCSC Ensembl
chr7:130956115..130956418hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5919116
Supporting Variants
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17435666
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