A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965881



Internal ID18254425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49134589..49135192hg38UCSC Ensembl
Innerchr20:47751126..47751729hg19UCSC Ensembl
Innerchr20:47184533..47185136hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2238636, nssv2238637, nssv2238632, nssv2238638, nssv2238633, nssv2238634, nssv2238635, nssv2238640, nssv2238631, nssv2238639
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSTAU1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965881
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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