A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2666954



Internal ID17773204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94834670..94838374hg38UCSC Ensembl
Innerchr2:95500415..95504119hg19UCSC Ensembl
Innerchr2:94864142..94867846hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383705
hg193705
hg183705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963817
Supporting Variants
SamplesHGDP00542
Known GenesANKRD20A8P
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)nssv2666954
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