A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250082



Internal ID21301693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18994029..19001311hg38UCSC Ensembl
Outerchr8:18991998..19008638hg38UCSC Ensembl
Innerchr8:18851539..18858821hg19UCSC Ensembl
Outerchr8:18849508..18866148hg19UCSC Ensembl
Innerchr8:18895819..18903101hg18UCSC Ensembl
Outerchr8:18893788..18910428hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3816641
hg1916641
hg1816641
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170225
Supporting Variants
SamplesMLY_1
Known GenesPSD3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250082
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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