A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2548060



Internal ID17872147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63010451..63110185hg38UCSC Ensembl
Innerchr9:66915423..67015157hg19UCSC Ensembl
Innerchr9:66655243..66754977hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3899735
hg1999735
hg1899735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972743
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2548060
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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