A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1809548



Internal ID17388510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181048790..181050587hg38UCSC Ensembl
Innerchr1:181017926..181019723hg19UCSC Ensembl
Innerchr1:179284549..179286346hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946529
Supporting Variants
SamplesHGDP00456
Known GenesMR1
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)nssv1809548
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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