A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2547451



Internal ID17837768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63330148..63350216hg38UCSC Ensembl
Innerchr9:67285120..67305188hg19UCSC Ensembl
Innerchr9:66974940..66995008hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3820069
hg1920069
hg1820069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv972381
Supporting Variants
SamplesHGDP00998
Known GenesAQP7P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2547451
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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