A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2527728



Internal ID17840448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:35449850..35451061hg38UCSC Ensembl
Innerchr9:35449847..35451058hg19UCSC Ensembl
Innerchr9:35439847..35441058hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381212
hg191212
hg181212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982211
Supporting Variants
SamplesHGDP00998
Known GenesATP8B5P
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)nssv2527728
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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