A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2528480



Internal ID17775876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:34917468..34922945hg38UCSC Ensembl
Innerchr9:34917465..34922942hg19UCSC Ensembl
Innerchr9:34907465..34912942hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg385478
hg195478
hg185478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972664
Supporting Variants
SamplesHGDP00542
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)nssv2528480
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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