A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977932



Internal ID18613137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20531402..20548365hg38UCSC Ensembl
Innerchr16:20542724..20559687hg19UCSC Ensembl
Innerchr16:20450225..20467188hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3816964
hg1916964
hg1816964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2049828, nssv2049830, nssv2049827, nssv2049831, nssv2049829, nssv2049825, nssv2049823, nssv2049832, nssv2049826, nssv2049824
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACSM2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977932
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer