A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976389



Internal ID19236023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13826605..13830505hg38UCSC Ensembl
Outerchr1:14153100..14157000hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115337
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976389
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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