A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993256



Internal ID19247006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229788030..229788080hg38UCSC Ensembl
Outerchr1:229923777..229923827hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141750
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993256
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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