A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141346



Internal ID19257400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:90326437..90393837hg38UCSC Ensembl
Outerchr2:90380200..90447600hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3867401
hg1967401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1958n106
Supporting Variantsnssv3992849
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141346
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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