A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2568325



Internal ID17740053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125595624..125597693hg38UCSC Ensembl
Innerchr9:128357903..128359972hg19UCSC Ensembl
Innerchr9:127397724..127399793hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382070
hg192070
hg182070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972451
Supporting Variants
SamplesHGDP00456
Known GenesMAPKAP1
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)nssv2568325
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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