A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121227



Internal ID19260589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281925..201284717hg38UCSC Ensembl
Outerchr2:202146648..202149440hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382793
hg192793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2129n106
Supporting Variantsnssv3967188, nssv3964456
SamplesKWS2, KWS1
Known GenesCASP8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121227
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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