A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1486n106



Internal ID22795314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55385839..55388439hg38UCSC Ensembl
chr17:53463200..53465800hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120719, nsv1130364, nsv1135343
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1486n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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