A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971682



Internal ID18260213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86657271..86659042hg38UCSC Ensembl
Innerchr8:87669499..87671270hg19UCSC Ensembl
Innerchr8:87738615..87740386hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381772
hg191772
hg181772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2512737, nssv2512741, nssv2512738, nssv2512740, nssv2512739, nssv2512745, nssv2512736, nssv2512742, nssv2512743, nssv2512744
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCNGB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971682
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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