A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979086



Internal ID18614289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108876794..108878680hg38UCSC Ensembl
Innerchr2:109493250..109495136hg19UCSC Ensembl
Innerchr2:108859682..108861568hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg381887
hg191887
hg181887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2196397, nssv2196406, nssv2196404, nssv2196403, nssv2196401, nssv2196399, nssv2196400, nssv2196402, nssv2196405, nssv2196398
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)nsv979086
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