A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971319



Internal ID18606539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70093548..70108414hg38UCSC Ensembl
Innerchr8:71005783..71020649hg19UCSC Ensembl
Innerchr8:71168337..71183203hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3814867
hg1914867
hg1814867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2508489, nssv2508488, nssv2508490, nssv2508485, nssv2508486, nssv2508484, nssv2508491, nssv2508483, nssv2508487, nssv2508492
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)nsv971319
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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