A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011218



Internal ID22072849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48550739..48563727hg38UCSC Ensembl
Outerchr2:48548375..48567705hg38UCSC Ensembl
Innerchr2:48777878..48790866hg19UCSC Ensembl
Outerchr2:48775514..48794844hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3819331
hg1919331
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155486
Supporting Variants
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011218
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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