A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981980



Internal ID18617176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127416574..127417379hg38UCSC Ensembl
Innerchr8:128428819..128429624hg19UCSC Ensembl
Innerchr8:128498001..128498806hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2516877, nssv2516878, nssv2516879, nssv2516883, nssv2516876, nssv2516882, nssv2516880, nssv2516881, nssv2516875, nssv2516884
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOU5F1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981980
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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