A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961995



Internal ID18597241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111806185..111816442hg38UCSC Ensembl
Innerchr2:112563762..112574019hg19UCSC Ensembl
Innerchr2:112280233..112290490hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3810258
hg1910258
hg1810258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2668249, nssv2668255, nssv2668256, nssv2668254, nssv2668252, nssv2668251, nssv2668257, nssv2668258, nssv2668250, nssv2668253
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961995
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