A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981976



Internal ID18617172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117523133..117524112hg38UCSC Ensembl
Innerchr8:118535372..118536351hg19UCSC Ensembl
Innerchr8:118604553..118605532hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38980
hg19980
hg18980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2517566, nssv2517562, nssv2517565, nssv2517570, nssv2517561, nssv2517568, nssv2517564, nssv2517567, nssv2517569, nssv2517563
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMED30
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981976
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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