A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121074



Internal ID18931494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168055321..168056494hg38UCSC Ensembl
Outerchr1:168024559..168025732hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv219n106
Supporting Variantsnssv3964761, nssv3985353
SamplesKWS2, KWS1
Known GenesDCAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121074
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