A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3231n106



Internal ID19021340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177472999..177474099hg38UCSC Ensembl
chr5:176900000..176901100hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1145079, nsv1122119
SamplesKWS1, KWS2
Known GenesDBN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3231n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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