A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2300250



Internal ID17404954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185639726..185647539hg38UCSC Ensembl
Innerchr3:185357514..185365327hg19UCSC Ensembl
Innerchr3:186840208..186848021hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg387814
hg197814
hg187814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965242
Supporting Variants
SamplesHGDP00521
Known GenesIGF2BP2
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)nssv2300250
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