A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1801969



Internal ID17392774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157709388..157711185hg38UCSC Ensembl
Innerchr1:157679178..157680975hg19UCSC Ensembl
Innerchr1:155945802..155947599hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946433
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)nssv1801969
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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