A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1806830



Internal ID17764873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176615704..176616704hg38UCSC Ensembl
Innerchr1:176584840..176585840hg19UCSC Ensembl
Innerchr1:174851463..174852463hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946516
Supporting Variants
SamplesHGDP00542
Known GenesPAPPA2
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)nssv1806830
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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