A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243320



Internal ID21307506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:17488456..17502521hg38UCSC Ensembl
Outerchr3:17488053..17504946hg38UCSC Ensembl
Innerchr3:17529948..17544013hg19UCSC Ensembl
Outerchr3:17529545..17546438hg19UCSC Ensembl
Innerchr3:17504952..17519017hg18UCSC Ensembl
Outerchr3:17504549..17521442hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3816894
hg1916894
hg1816894
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170159
Supporting Variants
SamplesNGO_35
Known GenesTBC1D5
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243320
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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