A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1839968



Internal ID17868914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34390126..34391584hg38UCSC Ensembl
Innerchr10:34679054..34680512hg19UCSC Ensembl
Innerchr10:34719060..34720518hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg381459
hg191459
hg181459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947825
Supporting Variants
SamplesHGDP01284
Known GenesPARD3
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)nssv1839968
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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