A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971324



Internal ID18606544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75373986..75378533hg38UCSC Ensembl
Innerchr8:76286221..76290768hg19UCSC Ensembl
Innerchr8:76448776..76453323hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg384548
hg194548
hg184548
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2508940, nssv2508942, nssv2508946, nssv2508944, nssv2508941, nssv2508943, nssv2508945, nssv2508949, nssv2508947, nssv2508948
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)nsv971324
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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