A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169382



Internal ID21313865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2532963..2627511hg38UCSC Ensembl
Outerchr20:2529996..2631922hg38UCSC Ensembl
Innerchr20:2513609..2608157hg19UCSC Ensembl
Outerchr20:2510642..2612568hg19UCSC Ensembl
Innerchr20:2461609..2556157hg18UCSC Ensembl
Outerchr20:2458642..2560568hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38101927
hg19101927
hg18101927
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242269, nssv14248768
SamplesNGO_54, NGO_42
Known GenesTMC2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169382
Frequency
Sample Size93
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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