A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974564



Internal ID18609775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:42800532..42803553hg38UCSC Ensembl
Innerchr15:43092730..43095751hg19UCSC Ensembl
Innerchr15:40880022..40883043hg18UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg383022
hg193022
hg183022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2019825, nssv2019828, nssv2019823, nssv2019829, nssv2019827, nssv2019822, nssv2019826, nssv2019831, nssv2019830, nssv2019824
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTTBK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974564
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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