A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998044



Internal ID18844198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24230591..24242143hg38UCSC Ensembl
Outerchr2:24453460..24465012hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3811553
hg1911553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153012
Supporting Variants
SamplesKWB1
Known GenesITSN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998044
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer