A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121714



Internal ID19280685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226650328..226652554hg38UCSC Ensembl
Outerchr1:226838029..226840255hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989640, nssv3994211
SamplesKWS2, KWS1
Known GenesITPKB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121714
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