A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2554319



Internal ID17870769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:82052879..82067334hg38UCSC Ensembl
Innerchr9:84667794..84682249hg19UCSC Ensembl
Innerchr9:83857614..83872069hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3814456
hg1914456
hg1814456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968712
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)nssv2554319
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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