A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126184



Internal ID18924203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21704707..21707607hg38UCSC Ensembl
Outerchr1:22031200..22034100hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984413
SamplesKWS1
Known GenesUSP48
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126184
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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