A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242317



Internal ID21305959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102997908..103038606hg38UCSC Ensembl
Outerchr1:102995677..103044702hg38UCSC Ensembl
Innerchr1:103463464..103504162hg19UCSC Ensembl
Outerchr1:103461233..103510258hg19UCSC Ensembl
Innerchr1:103236052..103276750hg18UCSC Ensembl
Outerchr1:103233821..103282846hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3849026
hg1949026
hg1849026
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169898
Supporting Variants
SamplesNGO_24
Known GenesCOL11A1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242317
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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