A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246269



Internal ID21309502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5250441..5252426hg38UCSC Ensembl
Outerchr11:5248100..5255848hg38UCSC Ensembl
Innerchr11:5271671..5273656hg19UCSC Ensembl
Outerchr11:5269330..5277078hg19UCSC Ensembl
Innerchr11:5228247..5230232hg18UCSC Ensembl
Outerchr11:5225906..5233654hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387749
hg197749
hg187749
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170312
Supporting Variants
SamplesNGO_50
Known GenesHBG1, HBG2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246269
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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