A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961487



Internal ID18596733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111867857..111875358hg38UCSC Ensembl
Innerchr2:112625434..112632935hg19UCSC Ensembl
Innerchr2:112341905..112349406hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg387502
hg197502
hg187502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2197849, nssv2197848, nssv2197852, nssv2197847, nssv2197846, nssv2197844, nssv2197853, nssv2197850, nssv2197845, nssv2197851
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961487
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