A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2084536



Internal ID17749734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20322470..20375731hg38UCSC Ensembl
Innerchr17:20225783..20279044hg19UCSC Ensembl
Innerchr17:20166375..20219636hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3853262
hg1953262
hg1853262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978388
Supporting Variants
SamplesHGDP00521
Known GenesCCDC144CP
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)nssv2084536
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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