A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1815926



Internal ID17867758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209232686..209234222hg38UCSC Ensembl
Innerchr1:209406031..209407567hg19UCSC Ensembl
Innerchr1:207472654..207474190hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945272
Supporting Variants
SamplesHGDP01284
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)nssv1815926
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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