A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979671



Internal ID18614872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32357883..32359212hg38UCSC Ensembl
Innerchr22:32753870..32755199hg19UCSC Ensembl
Innerchr22:31083870..31085199hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381330
hg191330
hg181330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2264354, nssv2264352, nssv2264351, nssv2264350, nssv2264353, nssv2264355, nssv2264358, nssv2264359, nssv2264357, nssv2264356
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRFPL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979671
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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