A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2416n106



Internal ID22796244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45987586..45988486hg38UCSC Ensembl
chr21:47407500..47408400hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112808, nsv1144957
SamplesKWS2, KWS1
Known GenesCOL6A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2416n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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