A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966101



Internal ID18254645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30543279..30544787hg38UCSC Ensembl
Innerchr22:30939266..30940774hg19UCSC Ensembl
Innerchr22:29269266..29270774hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381509
hg191509
hg181509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2264490, nssv2264488, nssv2264487, nssv2264494, nssv2264492, nssv2264495, nssv2264493, nssv2264489, nssv2264491, nssv2264486
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSEC14L6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966101
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