A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv823243



Internal ID6136283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134363116..134369078hg19UCSC Ensembl
Innerchr5:134391015..134396977hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1430588
SamplesAK16
Known GenesPITX1
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv823243
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer