A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121253



Internal ID18926321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42989600..42989928hg38UCSC Ensembl
Outerchr3:43031092..43031420hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2515n106
Supporting Variantsnssv3965719, nssv3986198
SamplesKWS1, KWS2
Known GenesFAM198A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121253
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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