A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2085511



Internal ID17751582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20830145..20896613hg38UCSC Ensembl
Innerchr17:20733458..20799926hg19UCSC Ensembl
Innerchr17:20674050..20740518hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3866469
hg1966469
hg1866469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960439
Supporting Variants
SamplesHGDP00521
Known GenesCCDC144NL, LOC440416
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)nssv2085511
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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