A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412176



Internal ID22470046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156657700..156666884hg38UCSC Ensembl
chr5:156084711..156093895hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg389185
hg199185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893359
Supporting Variants
Samples
Known GenesSGCD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412176
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