A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv259n106



Internal ID20159616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212297793..212299278hg38UCSC Ensembl
chr1:212471135..212472620hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381486
hg191486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130276, nsv1120624, nsv1118881
SamplesKWS1, KWS2
Known GenesPPP2R5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv259n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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