A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130002



Internal ID18934485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165221644..165222141hg38UCSC Ensembl
Outerchr2:166078154..166078651hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2082n106
Supporting Variantsnssv3965144
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130002
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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