A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247116



Internal ID21304058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6871678..7165517hg38UCSC Ensembl
Outerchr18:6868500..7169249hg38UCSC Ensembl
Innerchr18:6871677..7165516hg19UCSC Ensembl
Outerchr18:6868499..7169248hg19UCSC Ensembl
Innerchr18:6861677..7155516hg18UCSC Ensembl
Outerchr18:6858499..7159248hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38300750
hg19300750
hg18300750
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169461
Supporting Variants
SamplesNGO_10
Known GenesARHGAP28, LAMA1, LINC00668
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247116
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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