A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv200n106



Internal ID20159557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152349524..152356824hg38UCSC Ensembl
chr1:152322000..152329300hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387301
hg197301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128626, nsv1115371
SamplesKWS1, KWS2
Known GenesFLG2, FLG-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv200n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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