A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121728



Internal ID19262591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32740275..32741590hg38UCSC Ensembl
Outerchr3:32781767..32783082hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984371, nssv3989648
SamplesKWS2, KWS1
Known GenesCNOT10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121728
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