A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972992



Internal ID19241138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18171113..18171163hg38UCSC Ensembl
Outerchr21:19543430..19543480hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114268
Supporting Variants
SamplesKWS2
Known GenesCHODL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972992
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