A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2075073



Internal ID17888570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8752201..8759015hg38UCSC Ensembl
Innerchr17:8655519..8662333hg19UCSC Ensembl
Innerchr17:8596244..8603058hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386815
hg196815
hg186815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960406
Supporting Variants
SamplesHGDP01307
Known GenesSPDYE4
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)nssv2075073
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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