A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2087349



Internal ID17837505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27272362..27275711hg38UCSC Ensembl
Innerchr17:25599388..25602737hg19UCSC Ensembl
Innerchr17:22623515..22626864hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg383350
hg193350
hg183350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962297
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)nssv2087349
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer