A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984287



Internal ID18619475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20409387..20492193hg38UCSC Ensembl
Innerchr16:20420709..20503515hg19UCSC Ensembl
Innerchr16:20328210..20411016hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3882807
hg1982807
hg1882807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2049728, nssv2049729, nssv2049725, nssv2049730, nssv2049727, nssv2049724, nssv2049721, nssv2049723, nssv2049722, nssv2049726
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACSM2A, ACSM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984287
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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