A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970167



Internal ID18258705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:132816386..132817386hg38UCSC Ensembl
Innerchr6:133137525..133138525hg19UCSC Ensembl
Innerchr6:133179218..133180218hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2423291, nssv2423295, nssv2423289, nssv2423293, nssv2423296, nssv2423294, nssv2423297, nssv2423298, nssv2423290, nssv2423292
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS12, SNORA33, SNORD100
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970167
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer