A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110352



Internal ID19285037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138900930..138902830hg38UCSC Ensembl
Outerchr2:139658500..139660400hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960002
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110352
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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