A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969420



Internal ID18604647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:74282277..74283665hg38UCSC Ensembl
Innerchr6:74991993..74993381hg19UCSC Ensembl
Innerchr6:75048713..75050101hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381389
hg191389
hg181389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2414667, nssv2414666, nssv2414672, nssv2414670, nssv2414675, nssv2414671, nssv2414669, nssv2414673, nssv2414668, nssv2414674
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969420
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