A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989893



Internal ID19214562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222616971..222617260hg38UCSC Ensembl
Outerchr2:223481690..223481979hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136474
Supporting Variants
SamplesKWS1
Known GenesFARSB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989893
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