A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2567655



Internal ID17771456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128272628..128276957hg38UCSC Ensembl
Innerchr9:131034907..131039236hg19UCSC Ensembl
Innerchr9:130074728..130079057hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg384330
hg194330
hg184330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972808
Supporting Variants
SamplesHGDP00542
Known GenesGOLGA2, SWI5
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)nssv2567655
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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