A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960949



Internal ID19206119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5214524..5214791hg38UCSC Ensembl
Outerchr1:5274584..5274851hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120186
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960949
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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