A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242199



Internal ID21301701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:43073779..43181178hg38UCSC Ensembl
Outerchr18:43067876..43183901hg38UCSC Ensembl
Innerchr18:40653744..40761143hg19UCSC Ensembl
Outerchr18:40647841..40763866hg19UCSC Ensembl
Innerchr18:38907742..39015141hg18UCSC Ensembl
Outerchr18:38901839..39017864hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38116026
hg19116026
hg18116026
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169594
Supporting Variants
SamplesMLY_1
Known GenesRIT2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242199
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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