A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246795



Internal ID21305091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72025431..72044359hg38UCSC Ensembl
Outerchr2:72025093..72051830hg38UCSC Ensembl
Innerchr2:72252561..72271489hg19UCSC Ensembl
Outerchr2:72252223..72278960hg19UCSC Ensembl
Innerchr2:72106069..72124997hg18UCSC Ensembl
Outerchr2:72105731..72132468hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3826738
hg1926738
hg1826738
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169553
Supporting Variants
SamplesNGO_18
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246795
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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