A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3022n106



Internal ID22796850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1523185..1524185hg38UCSC Ensembl
chr5:1523300..1524300hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112866, nsv1126708
SamplesKWS2, KWS1
Known GenesLPCAT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3022n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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