A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111132



Internal ID18912002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31328568..31328771hg38UCSC Ensembl
Outerchr16:31339889..31340092hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962357
SamplesKWS1
Known GenesITGAM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111132
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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