A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252171



Internal ID21302878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53011909hg38UCSC Ensembl
Outerchr3:52989195..53019618hg38UCSC Ensembl
Innerchr3:53028375..53045925hg19UCSC Ensembl
Outerchr3:53023211..53053634hg19UCSC Ensembl
Innerchr3:53003415..53020965hg18UCSC Ensembl
Outerchr3:52998251..53028674hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3830424
hg1930424
hg1830424
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169533
Supporting Variants
SamplesMLY_2
Known GenesSFMBT1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14252171
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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