A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966136



Internal ID19230622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:62550865..62553965hg38UCSC Ensembl
Outerchr2:62778000..62781100hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130225
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966136
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