A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247491



Internal ID21302406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21454896..21491066hg38UCSC Ensembl
Outerchr22:21452112..21562864hg38UCSC Ensembl
Innerchr22:21809185..21845355hg19UCSC Ensembl
Outerchr22:21806401..21917153hg19UCSC Ensembl
Innerchr22:20139185..20175355hg18UCSC Ensembl
Outerchr22:20136401..20247153hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38110753
hg19110753
hg18110753
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170294
Supporting Variants
SamplesMLY_14
Known GenesPI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247491
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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