A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2552106



Internal ID17468915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68368568..68410476hg38UCSC Ensembl
Innerchr9:70983484..71025392hg19UCSC Ensembl
Innerchr9:70173304..70215212hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3841909
hg1941909
hg1841909
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv972755
Supporting Variants
SamplesHGDP00927
Known GenesPGM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2552106
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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