A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245920



Internal ID21302743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21371709..21491005hg38UCSC Ensembl
Outerchr22:21367431..21491066hg38UCSC Ensembl
Innerchr22:21725998..21845294hg19UCSC Ensembl
Outerchr22:21721720..21845355hg19UCSC Ensembl
Innerchr22:20055998..20175294hg18UCSC Ensembl
Outerchr22:20051720..20175355hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38123636
hg19123636
hg18123636
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170294
Supporting Variants
SamplesMLY_17
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245920
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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