A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246232



Internal ID21311221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105476583..105479753hg38UCSC Ensembl
Outerchr1:105470754..105481433hg38UCSC Ensembl
Innerchr1:106019205..106022375hg19UCSC Ensembl
Outerchr1:106013376..106024055hg19UCSC Ensembl
Innerchr1:105820728..105823898hg18UCSC Ensembl
Outerchr1:105814899..105825578hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3810680
hg1910680
hg1810680
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170147
Supporting Variants
SamplesPML_4
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246232
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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