A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248410



Internal ID21307346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125705628..125910985hg38UCSC Ensembl
Outerchr3:125688845..125930560hg38UCSC Ensembl
Innerchr3:125424472..125629828hg19UCSC Ensembl
Outerchr3:125407689..125649403hg19UCSC Ensembl
Innerchr3:126907162..127112518hg18UCSC Ensembl
Outerchr3:126890379..127132093hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38241716
hg19241715
hg18241715
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170005
Supporting Variants
SamplesNGO_34
Known GenesALG1L, FAM86JP, MIR548I1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248410
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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