A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243867



Internal ID21304864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128064298..128069362hg38UCSC Ensembl
Outerchr2:128060983..128069876hg38UCSC Ensembl
Innerchr2:128821872..128826936hg19UCSC Ensembl
Outerchr2:128818557..128827450hg19UCSC Ensembl
Innerchr2:128538342..128543406hg18UCSC Ensembl
Outerchr2:128535027..128543920hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388894
hg198894
hg188894
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170174
Supporting Variants
SamplesNGO_16
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243867
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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