A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv172n106



Internal ID20159529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145217719..145258060hg38UCSC Ensembl
chr1:144342600..144380600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3840342
hg1938001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143454, nsv1130965
SamplesKWS1, KWS2
Known GenesLOC100288142, PPIAL4A, PPIAL4B, PPIAL4C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv172n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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