A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245473



Internal ID21312698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6871678..7434331hg38UCSC Ensembl
Outerchr18:6868500..7436701hg38UCSC Ensembl
Innerchr18:6871677..7434329hg19UCSC Ensembl
Outerchr18:6868499..7436699hg19UCSC Ensembl
Innerchr18:6861677..7424329hg18UCSC Ensembl
Outerchr18:6858499..7426699hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38568202
hg19568201
hg18568201
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169461
Supporting Variants
SamplesSNI_4
Known GenesARHGAP28, LAMA1, LINC00668, LRRC30
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245473
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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