A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251140



Internal ID21302119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79103652..79114973hg38UCSC Ensembl
Outerchr2:79102020..79115685hg38UCSC Ensembl
Innerchr2:79330778..79342099hg19UCSC Ensembl
Outerchr2:79329146..79342811hg19UCSC Ensembl
Innerchr2:79184286..79195607hg18UCSC Ensembl
Outerchr2:79182654..79196319hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3813666
hg1913666
hg1813666
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169744
Supporting Variants
SamplesMLY_12
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251140
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer