A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978852



Internal ID18267369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54724359..54790944hg38UCSC Ensembl
Innerchr19:55235864..55302396hg19UCSC Ensembl
Innerchr19:59927676..59994208hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3866586
hg1966533
hg1866533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2160804, nssv2160808, nssv2160810, nssv2160811, nssv2160807, nssv2160802, nssv2160805, nssv2160809, nssv2160803, nssv2160806
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKIR2DL1, KIR2DL3, KIR3DL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978852
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