A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142382



Internal ID18925472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2961219..2961301hg38UCSC Ensembl
Outerchr4:2962946..2963028hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964020, nssv3979932
SamplesKWS1, KWS2
Known GenesNOP14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142382
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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