A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1808416



Internal ID17735160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173139992..173149172hg38UCSC Ensembl
Innerchr1:173109131..173118311hg19UCSC Ensembl
Innerchr1:171375754..171384934hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg389181
hg199181
hg189181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946507
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv1808416
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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