A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv232n106



Internal ID20159589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184845537..184851650hg38UCSC Ensembl
chr1:184814671..184820784hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386114
hg196114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129873, nsv1135393
SamplesKWS1, KWS2
Known GenesFAM129A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv232n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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