A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv283n106



Internal ID22794111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227294563..227294907hg38UCSC Ensembl
chr1:227482264..227482608hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1145119, nsv1135756, nsv1120398
SamplesKWS2, KWS1
Known GenesCDC42BPA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv283n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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