A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2430945



Internal ID17397081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:163572756..163573900hg38UCSC Ensembl
Innerchr6:163993788..163994932hg19UCSC Ensembl
Innerchr6:163913778..163914922hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381145
hg191145
hg181145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981204
Supporting Variants
SamplesHGDP00456
Known GenesQKI
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)nssv2430945
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