A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989129



Internal ID18890863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226152841..226153090hg38UCSC Ensembl
Outerchr2:227017557..227017806hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130426
Supporting Variants
SamplesKWS2
Known GenesLOC646736
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989129
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