A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2398511



Internal ID17836990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26876493..26890202hg38UCSC Ensembl
Innerchr6:26844272..26857981hg19UCSC Ensembl
Innerchr6:26952251..26965960hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3813710
hg1913710
hg1813710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965692
Supporting Variants
SamplesHGDP00998
Known GenesGUSBP2
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)nssv2398511
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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