A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2419030



Internal ID17836638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:106641699..106643089hg38UCSC Ensembl
Innerchr6:107089574..107090964hg19UCSC Ensembl
Innerchr6:107196267..107197657hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381391
hg191391
hg181391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970157
Supporting Variants
SamplesHGDP00998
Known GenesQRSL1
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)nssv2419030
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