A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2206524



Internal ID17766613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:138287765..138293047hg38UCSC Ensembl
Innerchr2:139045335..139050617hg19UCSC Ensembl
Innerchr2:138761805..138767087hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385283
hg195283
hg185283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979130
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2206524
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