A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv229n106



Internal ID19018338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180658964..180659764hg38UCSC Ensembl
chr1:180628100..180628900hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121786, nsv1143472
SamplesKWS1, KWS2
Known GenesXPR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv229n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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