A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv254n106



Internal ID20159611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202245972..202246572hg38UCSC Ensembl
chr1:202215100..202215700hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112560, nsv1142788
SamplesKWS2, KWS1
Known GenesLGR6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv254n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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