A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249497



Internal ID21301746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38742218..38774616hg38UCSC Ensembl
Outerchr21:38732522..38775451hg38UCSC Ensembl
Innerchr21:40114142..40146540hg19UCSC Ensembl
Outerchr21:40104446..40147375hg19UCSC Ensembl
Innerchr21:39036012..39068410hg18UCSC Ensembl
Outerchr21:39026316..39069245hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3842930
hg1942930
hg1842930
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169974
Supporting Variants
SamplesMLY_1
Known GenesLINC00114
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249497
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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