A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972253



Internal ID18891084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39733781..39733836hg38UCSC Ensembl
Outerchr19:40224421..40224476hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123254
Supporting Variants
SamplesKWS2
Known GenesCLC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972253
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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