A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170312



Internal ID21314373
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246269, nssv14248839, nssv14242221
SamplesNGO_21, NGO_50, NGO_20
Known GenesHBG1, HBG2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170312
Frequency
Sample Size93
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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