A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2531827



Internal ID17851587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:60949588..60951840hg38UCSC Ensembl
Innerchr9:39920079..39922331hg19UCSC Ensembl
Innerchr9:39910079..39912331hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg382253
hg192253
hg182253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982227
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2531827
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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