A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv125n106



Internal ID20159482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91766500..91767782hg38UCSC Ensembl
chr1:92232057..92233339hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143420, nsv1120333
SamplesKWS1
Known GenesTGFBR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv125n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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