A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2223518



Internal ID17861698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228568051..228575626hg38UCSC Ensembl
Innerchr2:229432767..229440342hg19UCSC Ensembl
Innerchr2:229141011..229148586hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg387576
hg197576
hg187576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961932
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2223518
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