A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247690



Internal ID21311833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:13006102..13027372hg38UCSC Ensembl
Outerchr3:13005502..13029299hg38UCSC Ensembl
Innerchr3:13047602..13068872hg19UCSC Ensembl
Outerchr3:13047002..13070799hg19UCSC Ensembl
Innerchr3:13022602..13043872hg18UCSC Ensembl
Outerchr3:13022002..13045799hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3823798
hg1923798
hg1823798
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169912
Supporting Variants
SamplesSNI_13
Known GenesIQSEC1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247690
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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