A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2084445



Internal ID17848974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20111914..20115030hg38UCSC Ensembl
Innerchr17:20015227..20018343hg19UCSC Ensembl
Innerchr17:19955819..19958935hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383117
hg193117
hg183117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960437
Supporting Variants
SamplesHGDP01029
Known GenesSPECC1
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)nssv2084445
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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