A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250687



Internal ID21309600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36109476..36112411hg38UCSC Ensembl
Outerchr2:36108463..36123960hg38UCSC Ensembl
Innerchr2:36336619..36339554hg19UCSC Ensembl
Outerchr2:36335606..36351103hg19UCSC Ensembl
Innerchr2:36190123..36193058hg18UCSC Ensembl
Outerchr2:36189110..36204607hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3815498
hg1915498
hg1815498
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170091
Supporting Variants
SamplesNGO_51
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250687
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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