A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960444



Internal ID18595695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21402159..21448999hg38UCSC Ensembl
Innerchr17:21305471..21352311hg19UCSC Ensembl
Innerchr17:21246064..21292904hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3846841
hg1946841
hg1846841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2085913, nssv2085915, nssv2085917, nssv2085918, nssv2085921, nssv2085916, nssv2085922, nssv2085914, nssv2085920, nssv2085919
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKCNJ12, KCNJ18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960444
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