A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247400



Internal ID21310713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50508310..50535631hg38UCSC Ensembl
Outerchr20:50505431..50537915hg38UCSC Ensembl
Innerchr20:49124847..49152168hg19UCSC Ensembl
Outerchr20:49121968..49154452hg19UCSC Ensembl
Innerchr20:48558254..48585575hg18UCSC Ensembl
Outerchr20:48555375..48587859hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3832485
hg1932485
hg1832485
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169494
Supporting Variants
SamplesPML_1
Known GenesPTPN1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247400
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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