A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960323



Internal ID19212269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222090114..222090179hg38UCSC Ensembl
Outerchr1:222263456..222263521hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110668
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960323
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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