A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126770



Internal ID19275028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199665673..199665752hg38UCSC Ensembl
Outerchr2:200530396..200530475hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2128n106
Supporting Variantsnssv3985042
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126770
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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