A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242985



Internal ID21310405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40537027..40541762hg38UCSC Ensembl
Outerchr2:40536875..40551185hg38UCSC Ensembl
Innerchr2:40764167..40768902hg19UCSC Ensembl
Outerchr2:40764015..40778325hg19UCSC Ensembl
Innerchr2:40617671..40622406hg18UCSC Ensembl
Outerchr2:40617519..40631829hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3814311
hg1914311
hg1814311
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169961
Supporting Variants
SamplesNGO_7
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242985
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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