A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv194n106



Internal ID22794022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143398628..143527228hg38UCSC Ensembl
chr1:148825700..148954400hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38128601
hg19128701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110147, nsv1124591
SamplesKWS2, KWS1
Known GenesLOC101929780, LOC645166
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv194n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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