A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968962



Internal ID18604190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:88382032..88383032hg38UCSC Ensembl
Innerchr5:87677849..87678849hg19UCSC Ensembl
Innerchr5:87713605..87714605hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2368262, nssv2368257, nssv2368261, nssv2368258, nssv2368260, nssv2368255, nssv2368256, nssv2368254, nssv2368259, nssv2368263
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMEM161B-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968962
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