A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249343



Internal ID21305663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102951134..103038606hg38UCSC Ensembl
Outerchr1:102946505..103044702hg38UCSC Ensembl
Innerchr1:103416690..103504162hg19UCSC Ensembl
Outerchr1:103412061..103510258hg19UCSC Ensembl
Innerchr1:103189278..103276750hg18UCSC Ensembl
Outerchr1:103184649..103282846hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3898198
hg1998198
hg1898198
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169898
Supporting Variants
SamplesNGO_22
Known GenesCOL11A1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249343
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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