A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2427255



Internal ID17398023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:149914112..149923319hg38UCSC Ensembl
Innerchr6:150235248..150244455hg19UCSC Ensembl
Innerchr6:150276941..150286148hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg389208
hg199208
hg189208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970172
Supporting Variants
SamplesHGDP00521
Known GenesRAET1E-AS1, RAET1G
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)nssv2427255
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