A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1788091



Internal ID17879966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145188055..145252548hg38UCSC Ensembl
Innerchr1:144311634..144375115hg19UCSC Ensembl
Innerchr1:143022991..143086472hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3864494
hg1963482
hg1863482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946229
Supporting Variants
SamplesHGDP01307
Known GenesLINC00623, LOC100288142, LOC728875, PPIAL4A, PPIAL4B, PPIAL4C
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)nssv1788091
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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