A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978611



Internal ID18613814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14463170..14542345hg38UCSC Ensembl
Innerchr18:14463169..14542344hg19UCSC Ensembl
Innerchr18:14453169..14532344hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3879176
hg1979176
hg1879176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2117395, nssv2117393, nssv2117394, nssv2117398, nssv2117399, nssv2117396, nssv2117397, nssv2117400, nssv2117401, nssv2117402
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCXADRP3, POTEC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978611
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