A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv225n106



Internal ID20159582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179486365..179489165hg38UCSC Ensembl
chr1:179455500..179458300hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129632, nsv1128483
SamplesKWS1
Known GenesAXDND1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv225n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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