A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2680104



Internal ID17807001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13941688..13946407hg38UCSC Ensembl
Innerchr21:15314009..15318728hg19UCSC Ensembl
Innerchr21:14235880..14240599hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384720
hg194720
hg184720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979556
Supporting Variants
SamplesHGDP00778
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)nssv2680104
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