A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249281



Internal ID21308837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:50894508..51002880hg38UCSC Ensembl
Outerchr1:50890864..51003082hg38UCSC Ensembl
Innerchr1:51360180..51468552hg19UCSC Ensembl
Outerchr1:51356536..51468754hg19UCSC Ensembl
Innerchr1:51132768..51241140hg18UCSC Ensembl
Outerchr1:51129124..51241342hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38112219
hg19112219
hg18112219
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169689
Supporting Variants
SamplesNGO_45
Known GenesCDKN2C, FAF1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249281
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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