A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv879n106



Internal ID22794707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117792895..117794795hg38UCSC Ensembl
chr12:118230700..118232600hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115440, nsv1128672
SamplesKWS2, KWS1
Known GenesKSR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv879n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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