A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984289



Internal ID18619477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20640761..20659283hg38UCSC Ensembl
Innerchr16:20652083..20670605hg19UCSC Ensembl
Innerchr16:20559584..20578106hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3818523
hg1918523
hg1818523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2050984, nssv2050987, nssv2050983, nssv2050990, nssv2050982, nssv2050986, nssv2050985, nssv2050989, nssv2050988, nssv2050981
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACSM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984289
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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