A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142925



Internal ID19260548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5742221..5742281hg38UCSC Ensembl
Outerchr19:5742232..5742292hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1697n106
Supporting Variantsnssv3979700
SamplesKWS2
Known GenesCATSPERD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142925
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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