A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2100390



Internal ID17886842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47141368..47159653hg38UCSC Ensembl
Innerchr17:45218734..45237019hg19UCSC Ensembl
Innerchr17:42573733..42592018hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3818286
hg1918286
hg1818286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960498
Supporting Variants
SamplesHGDP01307
Known GenesCDC27
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)nssv2100390
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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