A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975949



Internal ID18611156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74353098..74359848hg38UCSC Ensembl
Innerchr11:74064143..74070893hg19UCSC Ensembl
Innerchr11:73741791..73748541hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386751
hg196751
hg186751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1895021, nssv1895019, nssv1895025, nssv1895020, nssv1895022, nssv1895026, nssv1895018, nssv1895023, nssv1895024, nssv1895027
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPGM2L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975949
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