A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961183



Internal ID18596429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12893849..12897791hg38UCSC Ensembl
Innerchr19:13004663..13008605hg19UCSC Ensembl
Innerchr19:12865663..12869605hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg383943
hg193943
hg183943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2134729, nssv2134725, nssv2134722, nssv2134721, nssv2134727, nssv2134724, nssv2134730, nssv2134728, nssv2134726, nssv2134723
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGCDH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961183
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