A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2096900



Internal ID17442516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44710452..44721769hg38UCSC Ensembl
Innerchr17:42787820..42799137hg19UCSC Ensembl
Innerchr17:40143346..40154663hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3811318
hg1911318
hg1811318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960113
Supporting Variants
SamplesHGDP00665
Known GenesDBF4B
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)nssv2096900
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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