A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2102525



Internal ID17832919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50848258..50850215hg38UCSC Ensembl
Innerchr17:48925619..48927576hg19UCSC Ensembl
Innerchr17:46280618..46282575hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381958
hg191958
hg181958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960123
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2102525
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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