A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989927



Internal ID19230185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:144524133..144524733hg38UCSC Ensembl
Outerchr2:145281700..145282300hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136309
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989927
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