A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979834



Internal ID18615035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52373576..52374576hg38UCSC Ensembl
Innerchr3:52407592..52408592hg19UCSC Ensembl
Innerchr3:52382632..52383632hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2283371, nssv2283369, nssv2283370, nssv2283367, nssv2283374, nssv2283368, nssv2283376, nssv2283372, nssv2283373, nssv2283375
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979834
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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