A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142283



Internal ID19261679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127368871..127369008hg38UCSC Ensembl
Outerchr2:128126447..128126584hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993785
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142283
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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