A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978622



Internal ID18267139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23705036..23710594hg38UCSC Ensembl
Innerchr18:21285000..21290558hg19UCSC Ensembl
Innerchr18:19538998..19544556hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg385559
hg195559
hg185559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2119952, nssv2119951, nssv2119955, nssv2119947, nssv2119948, nssv2119954, nssv2119953, nssv2119949, nssv2119950, nssv2119956
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLAMA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978622
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