A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2547280



Internal ID17811651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63313037..63327330hg38UCSC Ensembl
Innerchr9:67268009..67282302hg19UCSC Ensembl
Innerchr9:66957829..66972122hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3814294
hg1914294
hg1814294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968682
Supporting Variants
SamplesHGDP00927
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)nssv2547280
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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