A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127719



Internal ID18920248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33562920..33562995hg38UCSC Ensembl
Outerchr2:33787987..33788062hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956255
SamplesKWS1
Known GenesRASGRP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127719
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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