A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979879



Internal ID18268394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132600770..132602520hg38UCSC Ensembl
Innerchr3:132319614..132321364hg19UCSC Ensembl
Innerchr3:133802304..133804054hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381751
hg191751
hg181751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2293933, nssv2293937, nssv2293930, nssv2293928, nssv2293934, nssv2293936, nssv2293931, nssv2293929, nssv2293935, nssv2293932
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACAD11, ACKR4, NPHP3-ACAD11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979879
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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