A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983803



Internal ID18618995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21233194..21234329hg38UCSC Ensembl
Innerchr14:21701353..21702488hg19UCSC Ensembl
Innerchr14:20771193..20772328hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1979710, nssv1979708, nssv1979716, nssv1979713, nssv1979709, nssv1979715, nssv1979712, nssv1979711, nssv1979707, nssv1979714
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHNRNPC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983803
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