A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2102489



Internal ID17861104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49827588..49828788hg38UCSC Ensembl
Innerchr17:47904950..47906150hg19UCSC Ensembl
Innerchr17:45259949..45261149hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962340
Supporting Variants
SamplesHGDP01284
Known GenesKAT7
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)nssv2102489
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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