A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2553191



Internal ID17820101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:78328997..78330195hg38UCSC Ensembl
Innerchr9:80943913..80945111hg19UCSC Ensembl
Innerchr9:80133733..80134931hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968710
Supporting Variants
SamplesHGDP00927
Known GenesPSAT1
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)nssv2553191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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