A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142958



Internal ID18924232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75156330..75160774hg38UCSC Ensembl
Outerchr2:75383456..75387900hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg384445
hg194445
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979727
SamplesKWS2
Known GenesTACR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142958
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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