A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1760n106



Internal ID20161117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29010183..29010254hg38UCSC Ensembl
chr19:29501090..29501161hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1142936, nsv1129622
SamplesKWS2, KWS1
Known GenesLOC100505835
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1760n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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