A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983323



Internal ID18618517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51124573..51125274hg38UCSC Ensembl
Innerchr12:51518356..51519057hg19UCSC Ensembl
Innerchr12:49804623..49805324hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38702
hg19702
hg18702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1930004, nssv1930003, nssv1930008, nssv1930006, nssv1930005, nssv1930007, nssv1930010, nssv1930011, nssv1930009, nssv1930012
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTFCP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983323
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