A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2567098



Internal ID17507251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130489116..130496766hg38UCSC Ensembl
Innerchr9:133364503..133372153hg19UCSC Ensembl
Innerchr9:132354324..132361974hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg387651
hg197651
hg187651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982349
Supporting Variants
SamplesHGDP01029
Known GenesASS1
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)nssv2567098
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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