A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2169309



Internal ID17437230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46580981..46582867hg38UCSC Ensembl
Innerchr2:46808120..46810006hg19UCSC Ensembl
Innerchr2:46661624..46663510hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381887
hg191887
hg181887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961403
Supporting Variants
SamplesHGDP00665
Known GenesPIGF, RHOQ
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)nssv2169309
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