A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963225



Internal ID18598466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40784222..40785267hg38UCSC Ensembl
Innerchr2:41011362..41012407hg19UCSC Ensembl
Innerchr2:40864866..40865911hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381046
hg191046
hg181046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2170682, nssv2170683, nssv2170688, nssv2170687, nssv2170685, nssv2170681, nssv2170679, nssv2170680, nssv2170686, nssv2170684
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963225
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