A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1807211



Internal ID17401666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179448114..179457254hg38UCSC Ensembl
Innerchr1:179417249..179426389hg19UCSC Ensembl
Innerchr1:177683872..177693012hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg389141
hg199141
hg189141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946523
Supporting Variants
SamplesHGDP00521
Known GenesAXDND1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1807211
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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