A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126231



Internal ID19254005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243849198..243851498hg38UCSC Ensembl
Outerchr1:244012500..244014800hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984463
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126231
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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