A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1759038



Internal ID17448023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30935367..30936450hg38UCSC Ensembl
Innerchr1:31408214..31409297hg19UCSC Ensembl
Innerchr1:31180801..31181884hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381084
hg191084
hg181084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945863
Supporting Variants
SamplesHGDP00778
Known GenesPUM1, SNORD103A, SNORD103B
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)nssv1759038
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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