A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978786



Internal ID19236318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115723293..115723355hg38UCSC Ensembl
Outerchr1:116265914..116265976hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116608
Supporting Variants
SamplesKWS2
Known GenesCASQ2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978786
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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