A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv291n106



Internal ID22794119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230425654..230426654hg38UCSC Ensembl
chr1:230561400..230562400hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121791, nsv1118148
SamplesKWS2, KWS1
Known GenesPGBD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv291n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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