A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250165



Internal ID21307048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79548668..79556063hg38UCSC Ensembl
Outerchr1:79545488..79566283hg38UCSC Ensembl
Innerchr1:80014353..80021748hg19UCSC Ensembl
Outerchr1:80011173..80031968hg19UCSC Ensembl
Innerchr1:79786941..79794336hg18UCSC Ensembl
Outerchr1:79783761..79804556hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3820796
hg1920796
hg1820796
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169479
Supporting Variants
SamplesNGO_31
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250165
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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