A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3291n106



Internal ID20162648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25529642..25529789hg38UCSC Ensembl
chr6:25529870..25530017hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112121, nsv1130100, nsv1109292
SamplesKWS2, KWS1
Known GenesLRRC16A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3291n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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