A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv297n106



Internal ID22794125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232639783..232640097hg38UCSC Ensembl
chr1:232775529..232775843hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129881, nsv1130279
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv297n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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