A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976331



Internal ID18611537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35766042..35766542hg38UCSC Ensembl
Innerchr14:36235248..36235748hg19UCSC Ensembl
Innerchr14:35304999..35305499hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1982563, nssv1982560, nssv1982559, nssv1982561, nssv1982564, nssv1982558, nssv1982557, nssv1982556, nssv1982555, nssv1982562
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRALGAPA1, RALGAPA1P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976331
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