A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982153



Internal ID19225119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40214969..40215258hg38UCSC Ensembl
Outerchr21:41586896..41587185hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119699
Supporting Variants
SamplesKWS1
Known GenesDSCAM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982153
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