A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2081212



Internal ID17817552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18572849..18617426hg38UCSC Ensembl
Innerchr17:18476163..18520739hg19UCSC Ensembl
Innerchr17:18416888..18461464hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3844578
hg1944577
hg1844577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960067
Supporting Variants
SamplesHGDP00927
Known GenesCCDC144B
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)nssv2081212
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