A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247233



Internal ID21307190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2690335..2758139hg38UCSC Ensembl
Outerchr18:2678121..2763212hg38UCSC Ensembl
Innerchr18:2690333..2758137hg19UCSC Ensembl
Outerchr18:2678119..2763210hg19UCSC Ensembl
Innerchr18:2680333..2748137hg18UCSC Ensembl
Outerchr18:2668119..2753210hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3885092
hg1985092
hg1885092
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169759
Supporting Variants
SamplesNGO_32
Known GenesSMCHD1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247233
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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