A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142251



Internal ID19264073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5761463..5761618hg38UCSC Ensembl
Outerchr19:5761474..5761629hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993756, nssv3988146
SamplesKWS2, KWS1
Known GenesCATSPERD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142251
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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