A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1822657



Internal ID17744356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228528910..228648269hg38UCSC Ensembl
Innerchr1:228716611..228784016hg19UCSC Ensembl
Innerchr1:226783234..226850639hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38119360
hg1967406
hg1867406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945355
Supporting Variants
SamplesHGDP00521
Known GenesDUSP5P1, RHOU
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)nssv1822657
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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