A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247477



Internal ID21308716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105470132..105476582hg38UCSC Ensembl
Outerchr1:105459540..105476583hg38UCSC Ensembl
Innerchr1:106012754..106019204hg19UCSC Ensembl
Outerchr1:106002162..106019205hg19UCSC Ensembl
Innerchr1:105814277..105820727hg18UCSC Ensembl
Outerchr1:105803685..105820728hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3817044
hg1917044
hg1817044
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170147
Supporting Variants
SamplesNGO_44
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247477
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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