A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2679702



Internal ID17847417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13958355..13959729hg38UCSC Ensembl
Innerchr21:15330676..15332050hg19UCSC Ensembl
Innerchr21:14252547..14253921hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg381375
hg191375
hg181375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966000
Supporting Variants
SamplesHGDP01029
Known GenesANKRD20A11P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2679702
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