A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971635



Internal ID18260166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30785765..30786265hg38UCSC Ensembl
Innerchr8:30643281..30643781hg19UCSC Ensembl
Innerchr8:30762823..30763323hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2498646, nssv2498651, nssv2498643, nssv2498650, nssv2498649, nssv2498644, nssv2498652, nssv2498647, nssv2498645, nssv2498648
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP2CB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971635
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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