A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250475



Internal ID21310851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105491310..105713804hg38UCSC Ensembl
Outerchr1:105487979..105726548hg38UCSC Ensembl
Innerchr1:106033932..106256426hg19UCSC Ensembl
Outerchr1:106030601..106269170hg19UCSC Ensembl
Innerchr1:105835455..106057949hg18UCSC Ensembl
Outerchr1:105832124..106070693hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38238570
hg19238570
hg18238570
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169608
Supporting Variants
SamplesPML_1
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250475
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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