A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250225



Internal ID21303539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186406620..186494866hg38UCSC Ensembl
Outerchr1:186405225..186501242hg38UCSC Ensembl
Innerchr1:186375752..186463998hg19UCSC Ensembl
Outerchr1:186374357..186470374hg19UCSC Ensembl
Innerchr1:184642375..184730621hg18UCSC Ensembl
Outerchr1:184640980..184736997hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3896018
hg1996018
hg1896018
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169774
Supporting Variants
SamplesMLY_7
Known GenesC1orf27, MIR548F1, PDC
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250225
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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