A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv126n106



Internal ID20159483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92486343..92487143hg38UCSC Ensembl
chr1:92951900..92952700hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112537, nsv1142763
SamplesKWS2, KWS1
Known GenesGFI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv126n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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