A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169592



Internal ID21313825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226478072..226481352hg38UCSC Ensembl
Outerchr2:226477322..226483083hg38UCSC Ensembl
Innerchr2:227342788..227346068hg19UCSC Ensembl
Outerchr2:227342038..227347799hg19UCSC Ensembl
Innerchr2:227051032..227054312hg18UCSC Ensembl
Outerchr2:227050282..227056043hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385762
hg195762
hg185762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245393
SamplesMLY_16
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169592
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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