A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2248972



Internal ID17504990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39342417..39344712hg38UCSC Ensembl
Innerchr21:40714343..40716638hg19UCSC Ensembl
Innerchr21:39636213..39638508hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382296
hg192296
hg182296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979537
Supporting Variants
SamplesHGDP01029
Known GenesHMGN1
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)nssv2248972
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