A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1807314



Internal ID17847640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179589725..179590835hg38UCSC Ensembl
Innerchr1:179558860..179559970hg19UCSC Ensembl
Innerchr1:177825483..177826593hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946524
Supporting Variants
SamplesHGDP01029
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)nssv1807314
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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