A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073812



Internal ID17770303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5124088..5179617hg38UCSC Ensembl
Innerchr17:5027383..5082912hg19UCSC Ensembl
Innerchr17:4968107..5023636hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3855530
hg1955530
hg1855530
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960045
Supporting Variants
SamplesHGDP00542
Known GenesUSP6, ZNF594
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)nssv2073812
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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