A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146676



Internal ID19199561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223031321..223031458hg38UCSC Ensembl
Outerchr1:223204663..223204800hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995830
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146676
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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