A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2106369



Internal ID17468430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62413853..62449107hg38UCSC Ensembl
Innerchr17:60491214..60526468hg19UCSC Ensembl
Innerchr17:57844946..57880200hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3835255
hg1935255
hg1835255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962358
Supporting Variants
SamplesHGDP00927
Known GenesEFCAB3, METTL2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2106369
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